14-56645159-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 56645159
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 56645159
    reference: chr 14
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139946
  ensembl protein: ENSP00000453988
  ensembl transcript: ENST00000561019
  gene symbol: PELI2
  hgvsc: ENST00000561019.1:c.-117A>G
  variant of: http://identifiers.org/hgnc/8828
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139946
  ensembl protein: ENSP00000452666
  ensembl transcript: ENST00000559044
  gene symbol: PELI2
  hgvsc: ENST00000559044.1:c.-117A>G
  variant of: http://identifiers.org/hgnc/8828
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139946
  ensembl protein: ENSP00000267460
  ensembl transcript: ENST00000267460
  gene symbol: PELI2
  hgvsc: ENST00000267460.4:c.184A>G
  hgvsp: ENSP00000267460.4:p.Ile62Val
  variant of: http://identifiers.org/hgnc/8828
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9604
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2466
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4432
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4123
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4387
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4393
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28671
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ile62Val
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

12-49994587-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994587
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994587
    reference: chr 12
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.566T>C
  hgvsp: ENSP00000438569.1:p.Phe189Ser
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3373A>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.979A>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.836T>C
  hgvsp: ENSP00000257894.2:p.Phe279Ser
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21833A>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+203T>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*842T>C
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4116
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe279Ser
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

12-49994594-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994594
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994595
    reference: chr 12
allele count: 1
allele frequency: 8.262823902696986e-6
allele num: 121024
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*834dupG
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+195dupG
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21824dupC
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.558dupG
  hgvsp: ENSP00000438569.1:p.Leu187AlafsTer11
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.828dupG
  hgvsp: ENSP00000257894.2:p.Leu277AlafsTer11
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.988dupC
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3364dupC
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2235
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu277AlafsTer11
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS

12-49994600-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994600
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994600
    reference: chr 12
allele count: 2
allele frequency: 1.652127940787734e-5
allele num: 121056
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.553C>T
  hgvsp: ENSP00000438569.1:p.Gln185Ter
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.992G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+190C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.823C>T
  hgvsp: ENSP00000257894.2:p.Gln275Ter
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3360G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21820G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*829C>T
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4117
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7331
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln275Ter
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

12-49994616-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994616
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994616
    reference: chr 12
allele count: 1
allele frequency: 8.260366760284156e-6
allele num: 121060
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.537C>T
  hgvsp: ENST00000544141.1:c.537C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*813C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.807C>T
  hgvsp: ENST00000257894.2:c.807C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1008G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3344G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+174C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21804G>A
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19098
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4116
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7352
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr269Thr
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/12-49994619-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994619
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994619
    reference: chr 12
allele count: 1
allele frequency: 8.261731658955718e-6
allele num: 121040
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*810G>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1011C>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21801C>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+171G>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.534G>T
  hgvsp: ENST00000544141.1:c.534G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3341C>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.804G>T
  hgvsp: ENST00000257894.2:c.804G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40528
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala268Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

12-49994619-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994619
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994619
    reference: chr 12
allele count: 1
allele frequency: 8.261731658955718e-6
allele num: 121040
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.804G>A
  hgvsp: ENST00000257894.2:c.804G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.534G>A
  hgvsp: ENST00000544141.1:c.534G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1011C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21801C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*810G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3341C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+171G>A
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40528
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala268Ala
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP

12-49994620-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994620
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994620
    reference: chr 12
allele count: 5
allele frequency: 4.130388091265055e-5
allele num: 121054
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21800G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1012G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.533C>T
  hgvsp: ENSP00000438569.1:p.Ala178Val
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.803C>T
  hgvsp: ENSP00000257894.2:p.Ala268Val
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3340G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+170C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*809C>T
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21925
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala268Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

12-49994632-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994632
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994631
    reference: chr 12
allele count: 2
allele frequency: 1.65144584083365e-5
allele num: 121106
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.790delC
  hgvsp: ENSP00000257894.2:p.Leu264CysfsTer31
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.520delC
  hgvsp: ENSP00000438569.1:p.Leu174CysfsTer31
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3326delG
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+157delC
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21786delG
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1026delG
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*796delC
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu264CysfsTer31
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: AG
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

12-49994633-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994633
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994633
    reference: chr 12
allele count: 2
allele frequency: 1.651391297167864e-5
allele num: 121110
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.790C>T
  hgvsp: ENST00000257894.2:c.790C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1025G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+157C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*796C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21787G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.520C>T
  hgvsp: ENST00000544141.1:c.520C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3327G>A
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7405
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu264Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

12-49994636-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994636
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994636
    reference: chr 12
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*793C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21784G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+154C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.517C>T
  hgvsp: ENSP00000438569.1:p.His173Tyr
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.787C>T
  hgvsp: ENSP00000257894.2:p.His263Tyr
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1028G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3324G>A
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4114
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His263Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

12-49994646-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994646
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994646
    reference: chr 12
allele count: 1
allele frequency: 8.253412786187088e-6
allele num: 121162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1038G>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21774G>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3314G>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*783C>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.777C>A
  hgvsp: ENST00000257894.2:c.777C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.507C>A
  hgvsp: ENST00000544141.1:c.507C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+144C>A
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr259Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

12-49994657-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994657
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994657
    reference: chr 12
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3303T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.766A>G
  hgvsp: ENSP00000257894.2:p.Ser256Gly
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.496A>G
  hgvsp: ENSP00000438569.1:p.Ser166Gly
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21763T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+133A>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1049T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*772A>G
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7437
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser256Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

12-49994658-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994658
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994658
    reference: chr 12
allele count: 1338
allele frequency: 1.1039968315786e-2
allele num: 121196
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*771G>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+132G>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1050C>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.495G>C
  hgvsp: ENSP00000438569.1:p.Arg165Ser
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3302C>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21762C>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.765G>C
  hgvsp: ENSP00000257894.2:p.Arg255Ser
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 19612
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 22207
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 9.75e1
  variant carriers: 676
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 10220
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4587
  bin: 9.75e1
  variant carriers: 1252
hgvs: p.Arg255Ser
num of homozygotes: 85
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-49994661-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994661
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994661
    reference: chr 12
allele count: 8
allele frequency: 6.600442229629385e-5
allele num: 121204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*768C>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1053G>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21759G>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.492C>G
  hgvsp: ENSP00000438569.1:p.Asn164Lys
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.762C>G
  hgvsp: ENSP00000257894.2:p.Asn254Lys
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+129C>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3299G>C
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42304
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn254Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-49994672-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994672
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994672
    reference: chr 12
allele count: 1
allele frequency: 8.24905548314718e-6
allele num: 121226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1064G>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*757C>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.481C>A
  hgvsp: ENSP00000438569.1:p.His161Asn
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+118C>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3288G>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21748G>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.751C>A
  hgvsp: ENSP00000257894.2:p.His251Asn
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42340
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7524
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His251Asn
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

12-49994684-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994684
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994684
    reference: chr 12
allele count: 2
allele frequency: 1.649484536082474e-5
allele num: 121250
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21736A>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.739T>C
  hgvsp: ENST00000257894.2:c.739T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3276A>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*745T>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.469T>C
  hgvsp: ENST00000544141.1:c.469T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+106T>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1076A>G
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu247Leu
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum

12-49994692-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994692
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994692
    reference: chr 12
allele count: 6
allele frequency: 4.948535233570863e-5
allele num: 121248
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.731A>G
  hgvsp: ENSP00000257894.2:p.Asn244Ser
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+98A>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3268T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.461A>G
  hgvsp: ENSP00000438569.1:p.Asn154Ser
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1084T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21728T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*737A>G
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19773
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42417
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7518
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn244Ser
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

12-49994702-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994702
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994702
    reference: chr 12
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+88G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.721G>A
  hgvsp: ENSP00000257894.2:p.Glu241Lys
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21718C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*727G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.451G>A
  hgvsp: ENSP00000438569.1:p.Glu151Lys
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1094C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3258C>T
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2048
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42421
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu241Lys
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

12-49994711-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994711
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994710
    reference: chr 12
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1105delG
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.441delC
  hgvsp: ENSP00000438569.1:p.Thr148LeufsTer10
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3247delG
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*717delC
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.711delC
  hgvsp: ENSP00000257894.2:p.Thr238LeufsTer10
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21707delG
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+78delC
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3463
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7509
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr238LeufsTer10
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: TG
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

12-49994715-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994715
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994715
    reference: chr 12
allele count: 9
allele frequency: 7.421211471543777e-5
allele num: 121274
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.708G>A
  hgvsp: ENSP00000257894.2:p.Met236Ile
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.438G>A
  hgvsp: ENSP00000438569.1:p.Met146Ile
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21705C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1107C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3245C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+75G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*714G>A
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7498
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42328
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Met236Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS

http://identifiers.org/exac.variant/12-49994716-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994716
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994716
    reference: chr 12
allele count: 4
allele frequency: 3.298479400996141e-5
allele num: 121268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.437T>G
  hgvsp: ENSP00000438569.1:p.Met146Arg
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3244A>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21704A>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.707T>G
  hgvsp: ENSP00000257894.2:p.Met236Arg
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1108A>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+74T>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*713T>G
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22840
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3462
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42236
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met236Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-49994739-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994739
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994739
    reference: chr 12
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3221C>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1131C>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+51G>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.414G>T
  hgvsp: ENST00000544141.1:c.414G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21681C>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.684G>T
  hgvsp: ENST00000257894.2:c.684G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*690G>T
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly228Gly
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: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-49994742-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994742
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994742
    reference: chr 12
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+48G>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.681G>T
  hgvsp: ENSP00000257894.2:p.Lys227Asn
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*687G>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3218C>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1134C>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.411G>T
  hgvsp: ENSP00000438569.1:p.Lys137Asn
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21678C>A
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3449
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42386
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys227Asn
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

12-49994742-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994742
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994742
    reference: chr 12
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.411G>C
  hgvsp: ENSP00000438569.1:p.Lys137Asn
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3218C>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1134C>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+48G>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.681G>C
  hgvsp: ENSP00000257894.2:p.Lys227Asn
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*687G>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21678C>G
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42386
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys227Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

12-49994751-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994751
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994751
    reference: chr 12
allele count: 2
allele frequency: 1.649266900862567e-5
allele num: 121266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.402G>A
  hgvsp: ENSP00000438569.1:p.Met134Ile
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*678G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+39G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1143C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3209C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.672G>A
  hgvsp: ENSP00000257894.2:p.Met224Ile
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21669C>T
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42485
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7451
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Met224Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

12-49994760-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994760
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994760
    reference: chr 12
allele count: 4
allele frequency: 3.298153034300791e-5
allele num: 121280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*669C>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21660G>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3200G>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.393C>A
  hgvsp: ENSP00000438569.1:p.Asp131Glu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.663C>A
  hgvsp: ENSP00000257894.2:p.Asp221Glu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1152G>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+30C>A
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3444
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp221Glu
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

12-49994773-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994773
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994773
    reference: chr 12
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3187T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21647T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1165T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+17A>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.380A>G
  hgvsp: ENSP00000438569.1:p.Gln127Arg
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*656A>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.650A>G
  hgvsp: ENSP00000257894.2:p.Gln217Arg
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42757
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln217Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ

12-49994778-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994778
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994778
    reference: chr 12
allele count: 2
allele frequency: 1.64883180266781e-5
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*651G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.375G>A
  hgvsp: ENSP00000438569.1:p.Met125Ile
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.645G>A
  hgvsp: ENSP00000257894.2:p.Met215Ile
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3182C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21642C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1170C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+12G>A
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3442
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Met215Ile
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

12-49994784-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994784
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994784
    reference: chr 12
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+6G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1176C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3176C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.369G>A
  hgvsp: ENST00000544141.1:c.369G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*645G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.639G>A
  hgvsp: ENST00000257894.2:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21636C>T
  variant of: http://identifiers.org/hgnc/25031
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7432
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: c.633+6G>A
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

12-49994785-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994785
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994785
    reference: chr 12
allele count: 2062
allele frequency: 1.699973618256167e-2
allele num: 121296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.368C>T
  hgvsp: ENSP00000438569.1:p.Thr123Met
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1177G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21635G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.638C>T
  hgvsp: ENSP00000257894.2:p.Thr213Met
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*644C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.633+5C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3175G>A
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 3.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 165
genotype depth: GenotypeDepth
  all individuals: 10425
  bin: 3.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 4.25e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 193
genotype depth: GenotypeDepth
  all individuals: 23007
  bin: 2.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.75e1
  variant carriers: 137
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.25e1
  variant carriers: 164
genotype depth: GenotypeDepth
  all individuals: 19519
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.75e1
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 279
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 202
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 81
genotype quality: GenotypeQuality
  all individuals: 7295
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42574
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr213Met
num of homozygotes: 28
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS

12-49994792-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994792
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994792
    reference: chr 12
allele count: 4
allele frequency: 3.298316209575012e-5
allele num: 121274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.361G>A
  hgvsp: ENSP00000438569.1:p.Glu121Lys
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.631G>A
  hgvsp: ENSP00000257894.2:p.Glu211Lys
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21628C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.631G>A
  hgvsp: ENSP00000448656.1:p.Glu211Lys
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*637G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3168C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1184C>T
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7606
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu211Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-49994793-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994793
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994793
    reference: chr 12
allele count: 7
allele frequency: 5.772053366756271e-5
allele num: 121274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*636G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21627C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1185C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.630G>A
  hgvsp: ENST00000551047.1:c.630G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.360G>A
  hgvsp: ENST00000544141.1:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3167C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.630G>A
  hgvsp: ENST00000257894.2:c.630G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19712
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43904
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser210Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

12-49994802-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994802
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994802
    reference: chr 12
allele count: 26
allele frequency: 2.14464827768246e-4
allele num: 121232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3158C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.351G>A
  hgvsp: ENST00000544141.1:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1194C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.621G>A
  hgvsp: ENST00000551047.1:c.621G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*627G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.621G>A
  hgvsp: ENST00000257894.2:c.621G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21618C>T
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 19680
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10915
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr207Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-49994805-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994805
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994805
    reference: chr 12
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.348C>T
  hgvsp: ENST00000544141.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.618C>T
  hgvsp: ENST00000257894.2:c.618C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*624C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3155G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21615G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1197G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.618C>T
  hgvsp: ENST00000551047.1:c.618C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2868
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7592
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn206Asn
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

12-49994809-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994809
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994809
    reference: chr 12
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*620T>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3151A>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.344T>A
  hgvsp: ENSP00000438569.1:p.Met115Lys
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1201A>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.614T>A
  hgvsp: ENSP00000448656.1:p.Met205Lys
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.614T>A
  hgvsp: ENSP00000257894.2:p.Met205Lys
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21611A>T
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7588
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Met205Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

12-49994810-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994810
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994810
    reference: chr 12
allele count: 1
allele frequency: 8.254502831294471e-6
allele num: 121146
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.613A>T
  hgvsp: ENSP00000257894.2:p.Met205Leu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.343A>T
  hgvsp: ENSP00000438569.1:p.Met115Leu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3150T>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*619A>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.613A>T
  hgvsp: ENSP00000448656.1:p.Met205Leu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1202T>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21610T>A
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43843
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met205Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

12-49994817-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994817
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994817
    reference: chr 12
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3143C>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1209C>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.336G>C
  hgvsp: ENSP00000438569.1:p.Gln112His
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*612G>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.606G>C
  hgvsp: ENSP00000257894.2:p.Gln202His
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.606G>C
  hgvsp: ENSP00000448656.1:p.Gln202His
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21603C>G
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln202His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

12-49994820-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994820
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994820
    reference: chr 12
allele count: 3
allele frequency: 2.479011039862498e-5
allele num: 121016
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.603C>A
  hgvsp: ENSP00000448656.1:p.Asp201Glu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*609C>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3140G>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1212G>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.333C>A
  hgvsp: ENSP00000438569.1:p.Asp111Glu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21600G>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.603C>A
  hgvsp: ENSP00000257894.2:p.Asp201Glu
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7580
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp201Glu
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

12-49994823-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994823
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994823
    reference: chr 12
allele count: 1
allele frequency: 8.272530236098013e-6
allele num: 120882
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21597C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1215C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.600G>A
  hgvsp: ENST00000257894.2:c.600G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.330G>A
  hgvsp: ENST00000544141.1:c.330G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*606G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.600G>A
  hgvsp: ENST00000551047.1:c.600G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3137C>T
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln200Gln
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: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

12-49994833-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994833
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994833
    reference: chr 12
allele count: 6
allele frequency: 4.980079681274901e-5
allele num: 120480
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3127T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21587T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.590A>G
  hgvsp: ENSP00000448656.1:p.Gln197Arg
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1225T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.320A>G
  hgvsp: ENSP00000438569.1:p.Gln107Arg
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.590A>G
  hgvsp: ENSP00000257894.2:p.Gln197Arg
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*596A>G
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23712
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln197Arg
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

12-49994835-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994835
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994835
    reference: chr 12
allele count: 22
allele frequency: 1.827424660265143e-4
allele num: 120388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.318A>G
  hgvsp: ENST00000544141.1:c.318A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1227T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*594A>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21585T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3125T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.588A>G
  hgvsp: ENST00000551047.1:c.588A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.588A>G
  hgvsp: ENST00000257894.2:c.588A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10867
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19096
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23673
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7534
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu196Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

12-49994836-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994836
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994836
    reference: chr 12
allele count: 1
allele frequency: 8.311584686736373e-6
allele num: 120314
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3124T>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.317A>C
  hgvsp: ENSP00000438569.1:p.Glu106Ala
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1228T>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*593A>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.587A>C
  hgvsp: ENSP00000257894.2:p.Glu196Ala
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.587A>C
  hgvsp: ENSP00000448656.1:p.Glu196Ala
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21584T>G
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu196Ala
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

12-49994839-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994839
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994839
    reference: chr 12
allele count: 1
allele frequency: 8.332500083325001e-6
allele num: 120012
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.584C>T
  hgvsp: ENSP00000448656.1:p.Pro195Leu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*590C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.314C>T
  hgvsp: ENSP00000438569.1:p.Pro105Leu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21581G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.584C>T
  hgvsp: ENSP00000257894.2:p.Pro195Leu
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3121G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1231G>A
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro195Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

12-49994841-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994841
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994841
    reference: chr 12
allele count: 2
allele frequency: 1.668836153666433e-5
allele num: 119844
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.582C>T
  hgvsp: ENST00000257894.2:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3119G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21579G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*588C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.312C>T
  hgvsp: ENST00000544141.1:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1233G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.582C>T
  hgvsp: ENST00000551047.1:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser194Ser
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD

12-49994853-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994853
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994853
    reference: chr 12
allele count: 5
allele frequency: 4.218910845976002e-5
allele num: 118514
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3107A>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21567A>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*576T>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.570T>C
  hgvsp: ENST00000551047.1:c.570T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.300T>C
  hgvsp: ENST00000544141.1:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1245A>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.570T>C
  hgvsp: ENST00000257894.2:c.570T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1914
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.25e1
  variant carriers: 1
hgvs: p.Pro190Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

12-49994859-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994859
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994859
    reference: chr 12
allele count: 1
allele frequency: 8.459234946791412e-6
allele num: 118214
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.564C>A
  hgvsp: ENST00000257894.2:c.564C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*570C>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.564C>A
  hgvsp: ENST00000551047.1:c.564C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1251G>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3101G>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21561G>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.294C>A
  hgvsp: ENST00000544141.1:c.294C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser188Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum

12-49994860-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994860
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994860
    reference: chr 12
allele count: 2
allele frequency: 1.691932864103952e-5
allele num: 118208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*569C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.563C>T
  hgvsp: ENSP00000257894.2:p.Ser188Phe
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21560G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.563C>T
  hgvsp: ENSP00000448656.1:p.Ser188Phe
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.293C>T
  hgvsp: ENSP00000438569.1:p.Ser98Phe
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3100G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1252G>A
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40766
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser188Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

12-49994871-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994871
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994871
    reference: chr 12
allele count: 1
allele frequency: 8.542043940274029e-6
allele num: 117068
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3089C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.552G>A
  hgvsp: ENST00000257894.2:c.552G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1263C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.282G>A
  hgvsp: ENST00000544141.1:c.282G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.552G>A
  hgvsp: ENST00000551047.1:c.552G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21549C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*558G>A
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3286
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39849
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln184Gln
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

12-49994877-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994877
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994877
    reference: chr 12
allele count: 30
allele frequency: 2.570958453311394e-4
allele num: 116688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*552C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.546C>T
  hgvsp: ENST00000551047.1:c.546C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.276C>T
  hgvsp: ENST00000544141.1:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3083G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.546C>T
  hgvsp: ENST00000257894.2:c.546C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1269G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21543G>A
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21965
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser182Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

12-49994879-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994879
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994879
    reference: chr 12
allele count: 2
allele frequency: 1.716915047043472e-5
allele num: 116488
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3081T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.544A>G
  hgvsp: ENSP00000448656.1:p.Ser182Gly
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1271T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.544A>G
  hgvsp: ENSP00000257894.2:p.Ser182Gly
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21541T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.274A>G
  hgvsp: ENSP00000438569.1:p.Ser92Gly
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*550A>G
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39613
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7239
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser182Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD

12-49994881-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994881
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994881
    reference: chr 12
allele count: 1
allele frequency: 8.599191675982458e-6
allele num: 116290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1273C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.542G>A
  hgvsp: ENSP00000448656.1:p.Arg181Lys
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.542G>A
  hgvsp: ENSP00000257894.2:p.Arg181Lys
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.272G>A
  hgvsp: ENSP00000438569.1:p.Arg91Lys
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*548G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3079C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21539C>T
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg181Lys
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

12-49994886-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994886
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994886
    reference: chr 12
allele count: 1
allele frequency: 8.693535487011857e-6
allele num: 115028
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1278C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.537G>A
  hgvsp: ENST00000257894.2:c.537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.537G>A
  hgvsp: ENST00000551047.1:c.537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*543G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3074C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21534C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.267G>A
  hgvsp: ENST00000544141.1:c.267G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7071
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2048
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln179Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD

12-49994887-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994887
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994887
    reference: chr 12
allele count: 1
allele frequency: 8.694744896184747e-6
allele num: 115012
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1279T>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.536A>C
  hgvsp: ENSP00000448656.1:p.Gln179Pro
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.266A>C
  hgvsp: ENSP00000438569.1:p.Gln89Pro
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.536A>C
  hgvsp: ENSP00000257894.2:p.Gln179Pro
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21533T>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*542A>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3073T>G
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21755
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2048
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39114
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln179Pro
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

12-49994908-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994908
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994908
    reference: chr 12
allele count: 1
allele frequency: 8.872642095363157e-6
allele num: 112706
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.245G>A
  hgvsp: ENSP00000438569.1:p.Arg82His
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3052C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.515G>A
  hgvsp: ENSP00000257894.2:p.Arg172His
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1300C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*521G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21512C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.515G>A
  hgvsp: ENSP00000448656.1:p.Arg172His
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39012
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg172His
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

12-49994909-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994909
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994909
    reference: chr 12
allele count: 4
allele frequency: 3.548804939936476e-5
allele num: 112714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3051G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.244C>T
  hgvsp: ENSP00000438569.1:p.Arg82Cys
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1301G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*520C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21511G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.514C>T
  hgvsp: ENSP00000448656.1:p.Arg172Cys
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.514C>T
  hgvsp: ENSP00000257894.2:p.Arg172Cys
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3813
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg172Cys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

12-49994919-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994919
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994919
    reference: chr 12
allele count: 1
allele frequency: 8.975854950184005e-6
allele num: 111410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3041T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.506-2A>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*512-2A>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.506-2A>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21501T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.236-2A>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1311T>C
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38440
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3489
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 9.25e1
  variant carriers: 0
hgvs: c.506-2A>G
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

12-49994928-TAGAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994928
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994924
    reference: chr 12
allele count: 1
allele frequency: 9.095539547405952e-6
allele num: 109944
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1318+6_1318+9delGAGA
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.506-15_506-12delCTCT
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*512-15_*512-12delCTCT
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21488_-161-21485delGAGA
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.506-15_506-12delCTCT
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.236-15_236-12delCTCT
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3028_188-3025delGAGA
  variant of: http://identifiers.org/hgnc/25031
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20822
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3198
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37299
  bin: 6.25e1
  variant carriers: 0
hgvs: n.1318+6_1318+9delGAGA
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
reference allele: TAGAG
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

12-49994931-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994931
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994931
    reference: chr 12
allele count: 2
allele frequency: 1.825350467289719e-5
allele num: 109568
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1318+5A>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.506-14T>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*512-14T>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.506-14T>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3029A>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21489A>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.236-14T>C
  variant of: http://identifiers.org/hgnc/25296
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20515
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1783
  bin: 7.25e1
  variant carriers: 0
hgvs: n.1318+5A>G
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

12-49994934-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994934
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994934
    reference: chr 12
allele count: 1
allele frequency: 9.150805270863836e-6
allele num: 109280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21486G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.236-17C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3026G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1318+8G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.506-17C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.506-17C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*512-17C>T
  variant of: http://identifiers.org/hgnc/25296
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9879
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3605
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3492
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 9.25e1
  variant carriers: 0
hgvs: n.1318+8G>A
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD

12-49994937-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994937
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994937
    reference: chr 12
allele count: 1
allele frequency: 9.192190315108283e-6
allele num: 108788
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3023A>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*512-20T>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.236-20T>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.506-20T>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.506-20T>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1318+11A>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21483A>G
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9588
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3663
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3948
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6399
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/12-49994943-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994943
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994943
    reference: chr 12
allele count: 1
allele frequency: 9.249153702436226e-6
allele num: 108118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.236-26G>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.506-26G>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1318+17C>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21477C>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.506-26G>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3017C>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*512-26G>T
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31064
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4726
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5825
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3678
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

12-49994946-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994946
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994946
    reference: chr 12
allele count: 3
allele frequency: 2.784119383039145e-5
allele num: 107754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.236-29G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1318+20C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*512-29G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3014C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21474C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.506-29G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.506-29G>A
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6514
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5521
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 4997
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2741
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-49994947-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994947
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994947
    reference: chr 12
allele count: 2
allele frequency: 1.859946061564215e-5
allele num: 107530
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21473G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.506-30C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1318+21G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.236-30C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.506-30C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3013G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*512-30C>T
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12701
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6993
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7432
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5099
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3693
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26423
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

12-49994948-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994948
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994948
    reference: chr 12
allele count: 2
allele frequency: 1.858597873764032e-5
allele num: 107608
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21472A>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1318+22A>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.506-31T>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.506-31T>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3012A>G
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.236-31T>C
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*512-31T>C
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7319
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27001
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5237
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

12-49994949-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994949
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994949
    reference: chr 12
allele count: 2
allele frequency: 1.860638198902224e-5
allele num: 107490
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.506-32A>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21471T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1318+23T>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*512-32A>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.236-32A>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.506-32A>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3011T>C
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7120
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5238
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-49994954-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994954
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994954
    reference: chr 12
allele count: 2
allele frequency: 1.876419041900437e-5
allele num: 106586
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.506-37G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1318+28C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21466C>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.236-37G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*512-37G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.506-37G>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3006C>T
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11528
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10814
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3658
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4610
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4461
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

12-49994955-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994955
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994955
    reference: chr 12
allele count: 1
allele frequency: 9.384736664289199e-6
allele num: 106556
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*512-38T>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21465A>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-3005A>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.236-38T>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1318+29A>T
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.506-38T>A
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.506-38T>A
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5127
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3638
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

12-49994960-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994960
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994959
    reference: chr 12
allele count: 19
allele frequency: 1.798629255178159e-4
allele num: 105636
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*512-44delG
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21457delC
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.506-44delG
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.506-44delG
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-2997delC
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1318+37delC
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.236-44delG
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13542
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10493
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12672
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7232
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3552
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2912
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4732
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5674
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: TC
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-49994963-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994963
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994963
    reference: chr 12
allele count: 2
allele frequency: 1.904471699550545e-5
allele num: 105016
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.236-46G>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.506-46G>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-2997C>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*512-46G>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.506-46G>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21457C>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1318+37C>A
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9571
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12598
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4572
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3484
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5133
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-49994964-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994964
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994964
    reference: chr 12
allele count: 4
allele frequency: 3.800402842701326e-5
allele num: 105252
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.506-47T>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.236-47T>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1318+38A>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*512-47T>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21456A>C
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.506-47T>G
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-2996A>C
  variant of: http://identifiers.org/hgnc/25031
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9614
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14827
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12547
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4291
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5092
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4638
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12940
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2643
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3805
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3492
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1745
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

12-49994967-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49994967
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49994967
    reference: chr 12
allele count: 1
allele frequency: 9.628160443665633e-6
allele num: 103862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl protein: ENSP00000449569
  ensembl transcript: ENST00000551063
  gene symbol: PRPF40B
  hgvsc: ENST00000551063.1:c.-161-21453G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000433047
  ensembl transcript: ENST00000533372
  gene symbol: FAM186B
  hgvsc: ENST00000533372.1:c.*512-50C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000257894
  ensembl transcript: ENST00000257894
  gene symbol: FAM186B
  hgvsc: ENST00000257894.2:c.506-50C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000527253
  gene symbol: PRPF40B
  hgvsc: ENST00000527253.2:n.188-2993G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000438569
  ensembl transcript: ENST00000544141
  gene symbol: FAM186B
  hgvsc: ENST00000544141.1:c.236-50C>T
  variant of: http://identifiers.org/hgnc/25296
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000110844
  ensembl transcript: ENST00000508736
  gene symbol: PRPF40B
  hgvsc: ENST00000508736.1:n.1318+41G>A
  variant of: http://identifiers.org/hgnc/25031
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135436
  ensembl protein: ENSP00000448656
  ensembl transcript: ENST00000551047
  gene symbol: FAM186B
  hgvsc: ENST00000551047.1:c.506-50C>T
  variant of: http://identifiers.org/hgnc/25296
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9347
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3723
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7520
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6020
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 2560
bin: 8.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 2
allele frequency: 2.997422216893472e-5
allele num: 66724
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 1.304e1

MQ
type: SiteQuality
SIO_000300: 5.985e1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 4.775e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 2.383072e6

GenotypeQuality
all individuals: 1286
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40160
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7346
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2020
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2234
bin: 7.75e1
variant carriers: 0

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

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

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

European (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: 66632
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.276e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.293e0

MQRankSum
type: SiteQuality
SIO_000300: 1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

FS
type: SiteQuality
SIO_000300: 1.954e0

QD
type: SiteQuality
SIO_000300: 1.242e1

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e0

DP
type: SiteQuality
SIO_000300: 1.753852e6

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2018
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4116
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 345
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 8.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.52e-1

MQ
type: SiteQuality
SIO_000300: 5.993e1

DP
type: SiteQuality
SIO_000300: 1.752676e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.65e-1

QD
type: SiteQuality
SIO_000300: 1.327e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

FS
type: SiteQuality
SIO_000300: 1.225e1

GenotypeQuality
all individuals: 329
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 40101
bin: 6.25e1
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GenotypeQuality
all individuals: 2014
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00147072065312e-5
allele num: 66634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16268
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.445e0

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

QD
type: SiteQuality
SIO_000300: 1.461e1

FS
type: SiteQuality
SIO_000300: 4.241e0

MQRankSum
type: SiteQuality
SIO_000300: -1.215e0

DP
type: SiteQuality
SIO_000300: 1.753069e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 40477
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variant carriers: 0

GenotypeQuality
all individuals: 2021
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.144770800049158e-5
allele num: 16274
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.69e-1

QD
type: SiteQuality
SIO_000300: 1.041e1

FS
type: SiteQuality
SIO_000300: 3.976e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.262e0

VQSLOD
type: SiteQuality
SIO_000300: 7.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.139e0

DP
type: SiteQuality
SIO_000300: 1.755854e6

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4115
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 769
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16270
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66620
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.756951e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.81e-1

QD
type: SiteQuality
SIO_000300: 1.466e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 6.991e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

VQSLOD
type: SiteQuality
SIO_000300: 1.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e0

GenotypeQuality
all individuals: 248
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 9.25e1
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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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2017
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 68
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variant carriers: 0

GenotypeQuality
all individuals: 4115
bin: 9.75e1
variant carriers: 1

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50105073551486e-5
allele num: 66620
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: 16270
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

VQSLOD
type: SiteQuality
SIO_000300: 1.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.02e-1

FS
type: SiteQuality
SIO_000300: 6.991e0

QD
type: SiteQuality
SIO_000300: 1.466e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e0

DP
type: SiteQuality
SIO_000300: 1.756951e6

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001560811622043e-5
allele num: 66632
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: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.843884449907806e-4
allele num: 16270
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.002e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.78e-1

FS
type: SiteQuality
SIO_000300: 1.985e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.757353e6

QD
type: SiteQuality
SIO_000300: 1.464e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 74
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GenotypeQuality
all individuals: 7400
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
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GenotypeQuality
all individuals: 4115
bin: 9.75e1
variant carriers: 2

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16306
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: 906
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.000840235265874e-5
allele num: 66648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.046e1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.761579e6

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.073e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.12e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000930288389401e-5
allele num: 66646
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.26e-2

MQ
type: SiteQuality
SIO_000300: 5.984e1

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.687e0

DP
type: SiteQuality
SIO_000300: 1.761602e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-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
all individuals: 77
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 6.128201985537444e-5
allele num: 16318
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.017e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.903e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

GenotypeQuality
all individuals: 2042
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 74
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 769
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GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
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
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allele num: 16354
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
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FS
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BaseQRankSum
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SIO_000300: -5.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.378e0

QD
type: SiteQuality
SIO_000300: 1.443e1

MQRankSum
type: SiteQuality
SIO_000300: -1.61e-1

DP
type: SiteQuality
SIO_000300: 1.764619e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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
all individuals: 2247
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16380
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Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.408e0

DP
type: SiteQuality
SIO_000300: 1.765575e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.65e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-2

QD
type: SiteQuality
SIO_000300: 1.59e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 7
allele frequency: 4.272982541814186e-4
allele num: 16382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.799910004499775e-4
allele num: 66670
num of homozygotes: 0

Latino
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allele count: 51
allele frequency: 4.405666897028334e-3
allele num: 11576
num of homozygotes: 1

Other
type: Population
allele count: 6
allele frequency: 6.622516556291391e-3
allele num: 906
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African
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allele count: 1262
allele frequency: 1.212995001922338e-1
allele num: 10404
num of homozygotes: 84

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 1.134e0

VQSLOD
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DP
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SIO_000300: 1.825422e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

QD
type: SiteQuality
SIO_000300: 1.79e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-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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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
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European (Non-Finnish)
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allele count: 6
allele frequency: 8.999550022498874e-5
allele num: 66670
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.733415e6

InbreedingCoeff
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SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.66e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

QD
type: SiteQuality
SIO_000300: 1.507e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.062e0

GenotypeQuality
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
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: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.523e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.319e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.032e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.11e0

DP
type: SiteQuality
SIO_000300: 1.733104e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.228e1

VQSLOD
type: SiteQuality
SIO_000300: -2.061e0

GenotypeQuality
all individuals: 2
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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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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.999400119976005e-5
allele num: 66680
num of homozygotes: 0

East Asian
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allele count: 0
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allele num: 8648
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.35e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.911e1

DP
type: SiteQuality
SIO_000300: 1.733383e6

FS
type: SiteQuality
SIO_000300: 9.795e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

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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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

Other
type: Population
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.499370088187654e-5
allele num: 66676
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

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

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

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

Latino
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allele num: 11576
num of homozygotes: 0

Other
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East Asian
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African
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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: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

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

QD
type: SiteQuality
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FS
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MQRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.863e1

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

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

South Asian
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African
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Other
type: Population
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

VQSLOD
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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MQ
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QD
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DP
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InbreedingCoeff
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FS
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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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East Asian
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Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

South Asian
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allele frequency: 4.864404718472577e-4
allele num: 16446
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African
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allele frequency: 0.0e0
allele num: 10404
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

Other
type: Population
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allele num: 906
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MQRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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DP
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MQ
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QD
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ReadPosRankSum
type: SiteQuality
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.999580058791769e-5
allele num: 66676
num of homozygotes: 0

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

European (Finnish)
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allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

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

InbreedingCoeff
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ReadPosRankSum
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QD
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MQRankSum
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VQSLOD
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MQ
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.733131e6

BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

FS
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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QD
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: -1.406e0

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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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
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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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allele frequency: 0.0e0
allele num: 11574
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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: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

African
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allele frequency: 0.0e0
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ReadPosRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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DP
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FS
type: SiteQuality
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MQRankSum
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VQSLOD
type: SiteQuality
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BaseQRankSum
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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
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 10404
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Latino
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allele frequency: 0.0e0
allele num: 11574
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

VQSLOD
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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FS
type: SiteQuality
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MQRankSum
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DP
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MQ
type: SiteQuality
SIO_000300: 5.986e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.404e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.999220202747286e-5
allele num: 66684
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
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.733769e6

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.929e1

FS
type: SiteQuality
SIO_000300: 4.969e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.02e-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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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66688
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African
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allele count: 4
allele frequency: 3.844675124951942e-4
allele num: 10404
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.16e-1

VQSLOD
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InbreedingCoeff
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MQRankSum
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.733843e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.179e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

Other
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South Asian
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allele frequency: 0.0e0
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African
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

MQRankSum
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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InbreedingCoeff
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ClippingRankSum
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DP
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.94e1

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

East Asian
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num of homozygotes: 0

Other
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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African
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Latino
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allele frequency: 1.727712508638562e-4
allele num: 11576
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MQRankSum
type: SiteQuality
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QD
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InbreedingCoeff
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FS
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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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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bin: 9.75e1
variant carriers: 1

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

South Asian
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allele count: 0
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allele num: 16448
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

Latino
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African
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East Asian
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Other
type: Population
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VQSLOD
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BaseQRankSum
type: SiteQuality
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MQ
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ClippingRankSum
type: SiteQuality
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FS
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MQRankSum
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InbreedingCoeff
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DP
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 1.502195516524151e-3
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 67
allele frequency: 5.787836903939184e-3
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Other
type: Population
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allele frequency: 2.097130242825607e-2
allele num: 906
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African
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allele count: 186
allele frequency: 1.787773933102653e-2
allele num: 10404
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European (Non-Finnish)
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allele count: 1335
allele frequency: 2.001679311482292e-2
allele num: 66694
num of homozygotes: 18

European (Finnish)
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allele count: 192
allele frequency: 2.903811252268602e-2
allele num: 6612
num of homozygotes: 3

South Asian
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allele count: 250
allele frequency: 1.519756838905775e-2
allele num: 16450
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 4.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.77e-1

DP
type: SiteQuality
SIO_000300: 1.775609e6

FS
type: SiteQuality
SIO_000300: 5.18e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.998080614203455e-5
allele num: 66688
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.522e1

DP
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.09e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.16e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

European (Non-Finnish)
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allele count: 4
allele frequency: 5.998080614203455e-5
allele num: 66688
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

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

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

Latino
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allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-2

DP
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MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.69e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.623208506703652e-4
allele num: 8652
num of homozygotes: 0

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

South Asian
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allele count: 20
allele frequency: 1.219363492257042e-3
allele num: 16402
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.099e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

VQSLOD
type: SiteQuality
SIO_000300: 4.66e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 1.690239e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.45e-1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.09979260705136e-5
allele num: 16394
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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: 906
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.688925e6

VQSLOD
type: SiteQuality
SIO_000300: -4.14e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.326e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.697e0

QD
type: SiteQuality
SIO_000300: 1.088e1

FS
type: SiteQuality
SIO_000300: 2.0114e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16378
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.68857e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 7.955e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.823e-1

QD
type: SiteQuality
SIO_000300: 9.119999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.66e-1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 6.119951040391677e-5
allele num: 16340
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.3236e1

VQSLOD
type: SiteQuality
SIO_000300: -1.668e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.282e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.01e-1

DP
type: SiteQuality
SIO_000300: 1.688052e6

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-1

QD
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InbreedingCoeff
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ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 8.249000000000001e0

BaseQRankSum
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.686976e6

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.232134056185313e-4
allele num: 16232
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

South Asian
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allele num: 16132
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Other
type: Population
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FS
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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QD
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MQRankSum
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BaseQRankSum
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MQ
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15848
num of homozygotes: 0

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

Latino
type: Population
allele count: 6
allele frequency: 5.185825410544512e-4
allele num: 11570
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: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66508
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e-2

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

FS
type: SiteQuality
SIO_000300: 2.505e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 1.215e1

DP
type: SiteQuality
SIO_000300: 1.676997e6

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 2265
bin: 9.75e1
variant carriers: 22

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2177
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1957
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50407604608489e-5
allele num: 66486
num of homozygotes: 0

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

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

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

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

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

South Asian
type: Population
allele count: 21
allele frequency: 1.330967169476486e-3
allele num: 15778
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.11e-1

FS
type: SiteQuality
SIO_000300: 5.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.675967e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.48e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.373e1

GenotypeQuality
all individuals: 42945
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2177
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7537
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variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 8.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.360513929525506e-5
allele num: 15722
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66468
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: 1.457e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

DP
type: SiteQuality
SIO_000300: 1.673983e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.925e1

VQSLOD
type: SiteQuality
SIO_000300: -4.756e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.128e0

MQRankSum
type: SiteQuality
SIO_000300: -1.365e0

QD
type: SiteQuality
SIO_000300: 1.345e1

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

GenotypeQuality
all individuals: 673
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1951
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7475
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66382
num of homozygotes: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15516
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.632e0

MQRankSum
type: SiteQuality
SIO_000300: 4.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.322e0

QD
type: SiteQuality
SIO_000300: 1.032e1

FS
type: SiteQuality
SIO_000300: 1.302e0

DP
type: SiteQuality
SIO_000300: 1.668253e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e-1

MQ
type: SiteQuality
SIO_000300: 5.9e1

GenotypeQuality
all individuals: 7453
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2244
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1213
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2176
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15384
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.924557351809084e-4
allele num: 10392
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66350
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e-1

DP
type: SiteQuality
SIO_000300: 1.665359e6

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -8.92e-1

MQ
type: SiteQuality
SIO_000300: 5.894e1

VQSLOD
type: SiteQuality
SIO_000300: 4.75e-1

FS
type: SiteQuality
SIO_000300: 2.006e0

QD
type: SiteQuality
SIO_000300: 1.061e1

GenotypeQuality
all individuals: 653
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1190
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 99
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variant carriers: 0

GenotypeQuality
all individuals: 2291
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
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variant carriers: 0

GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 41217
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variant carriers: 0

GenotypeQuality
all individuals: 7321
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.552628384120432e-5
allele num: 65896
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.93050193050193e-4
allele num: 10360
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.027e0

VQSLOD
type: SiteQuality
SIO_000300: -1.36e2

MQ
type: SiteQuality
SIO_000300: 5.878e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 1.69154e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.328e0

DP
type: SiteQuality
SIO_000300: 1.650425e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.18e0

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

GenotypeQuality
all individuals: 659
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variant carriers: 0

GenotypeQuality
all individuals: 357
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variant carriers: 0

GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 7321
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GenotypeQuality
all individuals: 73
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variant carriers: 0

GenotypeQuality
all individuals: 1937
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GenotypeQuality
all individuals: 40720
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2166
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variant carriers: 0

GenotypeQuality
all individuals: 2081
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65928
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 7.028394714647174e-5
allele num: 14228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.62856e6

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

FS
type: SiteQuality
SIO_000300: 1.473e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.453e0

VQSLOD
type: SiteQuality
SIO_000300: -9.84e-2

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 8.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.26e0

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7318
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variant carriers: 0

GenotypeQuality
all individuals: 342
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GenotypeQuality
all individuals: 2165
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GenotypeQuality
all individuals: 180
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variant carriers: 0

GenotypeQuality
all individuals: 1203
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GenotypeQuality
all individuals: 1936
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GenotypeQuality
all individuals: 2761
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variant carriers: 0

GenotypeQuality
all individuals: 659
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variant carriers: 0

GenotypeQuality
all individuals: 2082
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.033612425676495e-5
allele num: 65928
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14224
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 4.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

MQRankSum
type: SiteQuality
SIO_000300: 5.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.634e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.148e1

DP
type: SiteQuality
SIO_000300: 1.628408e6

GenotypeQuality
all individuals: 413
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 9.25e1
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GenotypeQuality
all individuals: 223
bin: 7.5e0
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GenotypeQuality
all individuals: 202
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GenotypeQuality
all individuals: 2160
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GenotypeQuality
all individuals: 117
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variant carriers: 0

GenotypeQuality
all individuals: 427
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GenotypeQuality
all individuals: 2076
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GenotypeQuality
all individuals: 505
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GenotypeQuality
all individuals: 7252
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GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523832744118006e-5
allele num: 65624
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13456
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.81e-1

QD
type: SiteQuality
SIO_000300: 1.286e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.012e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.23e0

DP
type: SiteQuality
SIO_000300: 1.614132e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

FS
type: SiteQuality
SIO_000300: 8.744e0

VQSLOD
type: SiteQuality
SIO_000300: -6.165e-1

GenotypeQuality
all individuals: 7233
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
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variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
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GenotypeQuality
all individuals: 1201
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GenotypeQuality
all individuals: 39723
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GenotypeQuality
all individuals: 431
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GenotypeQuality
all individuals: 1914
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GenotypeQuality
all individuals: 2093
bin: 9.75e1
variant carriers: 30

GenotypeQuality
all individuals: 197
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 4.274417610600556e-4
allele num: 65506
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.674922600619196e-5
allele num: 10336
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13224
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

QD
type: SiteQuality
SIO_000300: 1.12e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.804e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e-1

DP
type: SiteQuality
SIO_000300: 1.611153e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

GenotypeQuality
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bin: 9.75e1
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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bin: 2.5e0
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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: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.936483346243222e-4
allele num: 10328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13104
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.42e-1

QD
type: SiteQuality
SIO_000300: 1.179e1

DP
type: SiteQuality
SIO_000300: 1.606582e6

FS
type: SiteQuality
SIO_000300: 3.968e0

VQSLOD
type: SiteQuality
SIO_000300: 7.85e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12982
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.529285823520416e-5
allele num: 65390
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.162e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.285e1

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

DP
type: SiteQuality
SIO_000300: 1.604655e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

MQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

GenotypeQuality
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bin: 7.75e1
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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GenotypeQuality
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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: 366
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538556218844237e-5
allele num: 64996
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

VQSLOD
type: SiteQuality
SIO_000300: 9.57e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

DP
type: SiteQuality
SIO_000300: 1.594079e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.502e0

QD
type: SiteQuality
SIO_000300: 1.292e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65004
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.74089226573154e-5
allele num: 10266
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12196
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.047e0

MQRankSum
type: SiteQuality
SIO_000300: -1.953e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.86e0

FS
type: SiteQuality
SIO_000300: 5.528e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

DP
type: SiteQuality
SIO_000300: 1.593427e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.73e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 220
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.553663538624075e-5
allele num: 64364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10726
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

VQSLOD
type: SiteQuality
SIO_000300: -7.267e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

MQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

QD
type: SiteQuality
SIO_000300: 2.42e0

FS
type: SiteQuality
SIO_000300: 1.734e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

DP
type: SiteQuality
SIO_000300: 1.573653e6

GenotypeQuality
all individuals: 1857
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.86046511627907e-4
allele num: 10750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.70170553428472e-5
allele num: 11492
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163873370577281e-4
allele num: 8592
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

QD
type: SiteQuality
SIO_000300: 1.433e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.25e-1

DP
type: SiteQuality
SIO_000300: 1.573357e6

FS
type: SiteQuality
SIO_000300: 1.423e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564602434521388e-5
allele num: 63914
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.554706e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.465e0

QD
type: SiteQuality
SIO_000300: 1.259e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63442
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.05999576001696e-4
allele num: 9434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9946
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.612e0

DP
type: SiteQuality
SIO_000300: 1.52829e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

MQ
type: SiteQuality
SIO_000300: 5.939e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.626e0

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.169e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9928
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.160056881023858e-5
allele num: 63290
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.587e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

DP
type: SiteQuality
SIO_000300: 1.516369e6

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.76e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
all individuals: 302
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
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GenotypeQuality
all individuals: 616
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GenotypeQuality
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GenotypeQuality
all individuals: 1995
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GenotypeQuality
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GenotypeQuality
all individuals: 6611
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63166
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.084363478638039e-4
allele num: 9222
num of homozygotes: 0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.506964e6

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 5.878e1

QD
type: SiteQuality
SIO_000300: 2.2e0

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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South Asian
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allele frequency: 0.0e0
allele num: 9096
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Other
type: Population
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allele frequency: 0.0e0
allele num: 768
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9838
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.588966218578193e-5
allele num: 62934
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

DP
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InbreedingCoeff
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MQRankSum
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MQ
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ReadPosRankSum
type: SiteQuality
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FS
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SIO_000300: 0.0e0

BaseQRankSum
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VQSLOD
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ClippingRankSum
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SIO_000300: -1.363e0

QD
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SIO_000300: 2.001e1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.193317422434368e-4
allele num: 8380
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11296
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62606
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.103e-1

ClippingRankSum
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MQ
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InbreedingCoeff
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SIO_000300: -4.3e-3

MQRankSum
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SIO_000300: -1.096e0

BaseQRankSum
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DP
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SIO_000300: 1.429311e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: -1.007e0

QD
type: SiteQuality
SIO_000300: 1.346e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1908
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11264
num of homozygotes: 0

East Asian
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allele count: 3
allele frequency: 3.591954022988506e-4
allele num: 8352
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6352
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8890
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62456
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.64e-1

QD
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MQ
type: SiteQuality
SIO_000300: 5.911e1

VQSLOD
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DP
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SIO_000300: 1.395439e6

FS
type: SiteQuality
SIO_000300: 4.651e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.66e-1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.200480192076831e-4
allele num: 8330
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.036699149906697e-4
allele num: 9646
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8872
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.919e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.131e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.772e0

QD
type: SiteQuality
SIO_000300: 1.283e1

FS
type: SiteQuality
SIO_000300: 4.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.27e-1

DP
type: SiteQuality
SIO_000300: 1.372815e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.20666987333654e-5
allele num: 62370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11258
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
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SIO_000300: 0.0e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: -3.33e-1

ReadPosRankSum
type: SiteQuality
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DP
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SIO_000300: 1.371162e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8856
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.209036647198511e-5
allele num: 62324
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8324
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6334
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9636
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 762
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

MQ
type: SiteQuality
SIO_000300: 5.937e1

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.823e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.692e0

ClippingRankSum
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SIO_000300: 9.89e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.35e-1

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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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8254
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

African
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allele frequency: 2.107037505267594e-4
allele num: 9492
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FS
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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DP
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQ
type: SiteQuality
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MQRankSum
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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
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61794
num of homozygotes: 0

Latino
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allele frequency: 8.911067545891998e-5
allele num: 11222
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African
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Other
type: Population
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East Asian
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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InbreedingCoeff
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BaseQRankSum
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DP
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ClippingRankSum
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QD
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ReadPosRankSum
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MQRankSum
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FS
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MQ
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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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East Asian
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European (Finnish)
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allele num: 6246
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African
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Other
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Latino
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European (Non-Finnish)
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allele frequency: 2.93513354857646e-4
allele num: 61326
num of homozygotes: 0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2632
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 967
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5225
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5868
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1748
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12486
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11050
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.313743637204998e-4
allele num: 8644
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9302
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61004
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.59e-1

DP
type: SiteQuality
SIO_000300: 1.247274e6

QD
type: SiteQuality
SIO_000300: 3.071e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

GenotypeQuality
all individuals: 930
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5269
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5876
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2570
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8680
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11070
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6222
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.937052579609973e-4
allele num: 8102
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61120
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.497e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

DP
type: SiteQuality
SIO_000300: 1.246546e6

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.52e-1