1-1247795-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247795
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247795
    reference: chr 1
allele count: 1
allele frequency: 4.026413271058142e-5
allele num: 24836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.758G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2268-47G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2441G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.690+25G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*886+25G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.712+25G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1292+25G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1482+25G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1756+25G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1398+25G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1170+25G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1748+25G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1464+25G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.626G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.286G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*562+25G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1161+25G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1377+25G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.612+25G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1852+25G>A
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-1247795-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247795
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247795
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 24836
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.758G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1464+25G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1170+25G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1292+25G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.612+25G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1852+25G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.690+25G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2441G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*886+25G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.286G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1748+25G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.626G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.712+25G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1482+25G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1756+25G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*562+25G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1377+25G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2268-47G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1398+25G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1161+25G>C
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

1-1247800-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247800
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247800
    reference: chr 1
allele count: 2
allele frequency: 8.008970046452026e-5
allele num: 24972
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*886+20C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1161+20C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1398+20C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1170+20C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1756+20C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.281C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1852+20C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1464+20C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2436C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1377+20C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2268-52C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*562+20C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1292+20C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.753C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.621C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.690+20C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.612+20C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1748+20C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1482+20C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.712+20C>A
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

1-1247802-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247802
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247802
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 24816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1161+18C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.612+18C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1748+18C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1756+18C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1170+18C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.619C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1377+18C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.751C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1464+18C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.712+18C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*562+18C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1292+18C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2268-54C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.279C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1398+18C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*886+18C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2434C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1482+18C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1852+18C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.690+18C>T
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

1-1247805-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247805
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247805
    reference: chr 1
allele count: 48
allele frequency: 1.932367149758454e-3
allele num: 24840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.616G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*562+15G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1748+15G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1464+15G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1756+15G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1170+15G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.748G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.276G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.690+15G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2431G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*886+15G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1377+15G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1852+15G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.612+15G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1292+15G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1161+15G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.712+15G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2268-57G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1398+15G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1482+15G>A
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-1247806-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247806
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247806
    reference: chr 1
allele count: 3
allele frequency: 1.202115723673666e-4
allele num: 24956
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.747C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.712+14C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.275C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2268-58C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.615C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1756+14C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1482+14C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.690+14C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1377+14C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.612+14C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1748+14C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1161+14C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1464+14C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*562+14C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2430C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1170+14C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1398+14C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1852+14C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1292+14C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*886+14C>T
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

1-1247817-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247817
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247817
    reference: chr 1
allele count: 2
allele frequency: 7.92895654931811e-5
allele num: 25224
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*562+3G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.604G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1756+3G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1852+3G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.712+3G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.736G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1161+3G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*886+3G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1377+3G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1292+3G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2268-69G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1398+3G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1482+3G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2419G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.612+3G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1464+3G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1170+3G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.264G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1748+3G>C
  variant of: http://identifiers.org/hgnc/26052
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.1482+3G>C
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-1247819-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247819
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247819
    reference: chr 1
allele count: 1
allele frequency: 3.95350676049656e-5
allele num: 25294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1377+1G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1292+1G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*886+1G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.262G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.690+1G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1482+1G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*562+1G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1852+1G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1161+1G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.734G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.602G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1398+1G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2417G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.612+1G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1464+1G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1748+1G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1170+1G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1756+1G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.712+1G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2268-71G>T
  variant of: http://identifiers.org/hgnc/26052
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.1482+1G>T
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

1-1247820-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247820
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247820
    reference: chr 1
allele count: 9
allele frequency: 3.543865175618208e-4
allele num: 25396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1170C>T
  hgvsp: ENST00000411962.1:c.1170C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.712C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1161C>T
  hgvsp: ENST00000419704.1:c.1161C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2268-72C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*562C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.733C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1464C>T
  hgvsp: ENST00000435064.1:c.1464C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1292C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.690C>T
  hgvsp: ENST00000421495.2:c.690C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1756C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1482C>T
  hgvsp: ENST00000540437.1:c.1482C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1852C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1377C>T
  hgvsp: ENST00000545578.1:c.1377C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1398C>T
  hgvsp: ENST00000450926.2:c.1398C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*886C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1748C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.612C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.601C>T
  variant of: http://identifiers.org/hgnc/26052
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.1482C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum

1-1247821-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247821
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247821
    reference: chr 1
allele count: 6
allele frequency: 2.343933119774983e-4
allele num: 25598
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1397G>A
  hgvsp: ENSP00000392848.2:p.Ser466Asn
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1376G>A
  hgvsp: ENSP00000444672.1:p.Ser459Asn
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1169G>A
  hgvsp: ENSP00000400548.1:p.Ser390Asn
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*561G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1747G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.600G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*885G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.711G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1291G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.260G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1463G>A
  hgvsp: ENSP00000413493.1:p.Ser488Asn
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1851G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1481G>A
  hgvsp: ENSP00000445001.1:p.Ser494Asn
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.611G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1755G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1160G>A
  hgvsp: ENSP00000404886.1:p.Ser387Asn
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.689G>A
  hgvsp: ENSP00000464436.1:p.Ser230Asn
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2268-73G>A
  variant of: http://identifiers.org/hgnc/26052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser494Asn
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS

1-1247825-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247825
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247825
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 25900
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1459G>A
  hgvsp: ENSP00000413493.1:p.Asp487Asn
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1477G>A
  hgvsp: ENSP00000445001.1:p.Asp493Asn
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1156G>A
  hgvsp: ENSP00000404886.1:p.Asp386Asn
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*557G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1287G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1372G>A
  hgvsp: ENSP00000444672.1:p.Asp458Asn
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2411G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1847G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*881G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.685G>A
  hgvsp: ENSP00000464436.1:p.Asp229Asn
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2268-77G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.728G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1743G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1751G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1393G>A
  hgvsp: ENSP00000392848.2:p.Asp465Asn
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.707G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1165G>A
  hgvsp: ENSP00000400548.1:p.Asp389Asn
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.596G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.256G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.607G>A
  variant of: http://identifiers.org/hgnc/26052
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp493Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP

1-1247826-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247826
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247826
    reference: chr 1
allele count: 2
allele frequency: 7.710694733595497e-5
allele num: 25938
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*556G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.606G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1286G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1458G>A
  hgvsp: ENST00000435064.1:c.1458G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.706G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1476G>A
  hgvsp: ENST00000540437.1:c.1476G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1392G>A
  hgvsp: ENST00000450926.2:c.1392G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1742G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2268-78G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.595G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.684G>A
  hgvsp: ENST00000421495.2:c.684G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1371G>A
  hgvsp: ENST00000545578.1:c.1371G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1155G>A
  hgvsp: ENST00000419704.1:c.1155G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1846G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1750G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2410G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.727G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.255G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*880G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1164G>A
  hgvsp: ENST00000411962.1:c.1164G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys492Lys
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

1-1247829-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247829
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247829
    reference: chr 1
allele count: 2
allele frequency: 7.644091117566121e-5
allele num: 26164
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1473G>A
  hgvsp: ENSP00000445001.1:p.Met491Ile
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1152G>A
  hgvsp: ENSP00000404886.1:p.Met384Ile
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*877G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1368G>A
  hgvsp: ENSP00000444672.1:p.Met456Ile
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1843G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.592G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.603G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*553G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1283G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1455G>A
  hgvsp: ENSP00000413493.1:p.Met485Ile
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1739G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2407G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1389G>A
  hgvsp: ENSP00000392848.2:p.Met463Ile
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.681G>A
  hgvsp: ENSP00000464436.1:p.Met227Ile
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1161G>A
  hgvsp: ENSP00000400548.1:p.Met387Ile
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.252G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.703G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2268-81G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1747G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.724G>A
  variant of: http://identifiers.org/hgnc/26052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met491Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

1-1247830-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247830
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247830
    reference: chr 1
allele count: 1
allele frequency: 3.801703163017032e-5
allele num: 26304
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1472T>C
  hgvsp: ENSP00000445001.1:p.Met491Thr
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.702T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.680T>C
  hgvsp: ENSP00000464436.1:p.Met227Thr
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1151T>C
  hgvsp: ENSP00000404886.1:p.Met384Thr
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1454T>C
  hgvsp: ENSP00000413493.1:p.Met485Thr
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1282T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1388T>C
  hgvsp: ENSP00000392848.2:p.Met463Thr
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2406T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.602T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*876T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1842T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1367T>C
  hgvsp: ENSP00000444672.1:p.Met456Thr
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.591T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.251T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1746T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1160T>C
  hgvsp: ENSP00000400548.1:p.Met387Thr
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1738T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*552T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.723T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2268-82T>C
  variant of: http://identifiers.org/hgnc/26052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met491Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-1247831-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247831
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247831
    reference: chr 1
allele count: 3
allele frequency: 1.141987057480015e-4
allele num: 26270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1159A>G
  hgvsp: ENSP00000400548.1:p.Met387Val
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1737A>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.250A>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.601A>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.722A>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*551A>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1745A>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.701A>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1366A>G
  hgvsp: ENSP00000444672.1:p.Met456Val
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2405A>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*875A>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1453A>G
  hgvsp: ENSP00000413493.1:p.Met485Val
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1150A>G
  hgvsp: ENSP00000404886.1:p.Met384Val
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.679A>G
  hgvsp: ENSP00000464436.1:p.Met227Val
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1471A>G
  hgvsp: ENSP00000445001.1:p.Met491Val
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1281A>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2268-83A>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1841A>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1387A>G
  hgvsp: ENSP00000392848.2:p.Met463Val
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.590A>G
  variant of: http://identifiers.org/hgnc/26052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met491Val
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-1247835-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247835
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247835
    reference: chr 1
allele count: 1
allele frequency: 3.776149837625557e-5
allele num: 26482
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1155G>C
  hgvsp: ENST00000411962.1:c.1155G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.718G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2268-87G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.597G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1383G>C
  hgvsp: ENST00000450926.2:c.1383G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2401G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1467G>C
  hgvsp: ENST00000540437.1:c.1467G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.697G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1837G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1146G>C
  hgvsp: ENST00000419704.1:c.1146G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1362G>C
  hgvsp: ENST00000545578.1:c.1362G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1449G>C
  hgvsp: ENST00000435064.1:c.1449G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.246G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1741G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.675G>C
  hgvsp: ENST00000421495.2:c.675G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1277G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*547G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.586G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1733G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*871G>C
  variant of: http://identifiers.org/hgnc/26052
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu489Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff

1-1247835-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247835
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247835
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 26482
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1362G>A
  hgvsp: ENST00000545578.1:c.1362G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.675G>A
  hgvsp: ENST00000421495.2:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1383G>A
  hgvsp: ENST00000450926.2:c.1383G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1741G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.697G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*871G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.718G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1146G>A
  hgvsp: ENST00000419704.1:c.1146G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1733G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1837G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.246G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1449G>A
  hgvsp: ENST00000435064.1:c.1449G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1467G>A
  hgvsp: ENST00000540437.1:c.1467G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*547G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1277G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.597G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2268-87G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.586G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2401G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1155G>A
  hgvsp: ENST00000411962.1:c.1155G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
canonical: true
consequence: synonymous
filter: AC_Adj0
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu489Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

1-1247839-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247839
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247839
    reference: chr 1
allele count: 4
allele frequency: 1.487652484379649e-4
allele num: 26888
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1463C>T
  hgvsp: ENSP00000445001.1:p.Thr488Ile
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*867C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1737C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.582C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1833C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.593C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2268-91C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1729C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.671C>T
  hgvsp: ENSP00000464436.1:p.Thr224Ile
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*543C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1379C>T
  hgvsp: ENSP00000392848.2:p.Thr460Ile
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1151C>T
  hgvsp: ENSP00000400548.1:p.Thr384Ile
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1142C>T
  hgvsp: ENSP00000404886.1:p.Thr381Ile
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1358C>T
  hgvsp: ENSP00000444672.1:p.Thr453Ile
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1445C>T
  hgvsp: ENSP00000413493.1:p.Thr482Ile
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.693C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2397C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.714C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.242C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1273C>T
  variant of: http://identifiers.org/hgnc/26052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr488Ile
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

1-1247839-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247839
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247839
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 26888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*543C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.714C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2397C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1729C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1445C>A
  hgvsp: ENSP00000413493.1:p.Thr482Asn
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1379C>A
  hgvsp: ENSP00000392848.2:p.Thr460Asn
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1463C>A
  hgvsp: ENSP00000445001.1:p.Thr488Asn
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1737C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1142C>A
  hgvsp: ENSP00000404886.1:p.Thr381Asn
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.671C>A
  hgvsp: ENSP00000464436.1:p.Thr224Asn
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1151C>A
  hgvsp: ENSP00000400548.1:p.Thr384Asn
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1358C>A
  hgvsp: ENSP00000444672.1:p.Thr453Asn
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1273C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2268-91C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.582C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*867C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.693C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.593C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.242C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1833C>A
  variant of: http://identifiers.org/hgnc/26052
canonical: true
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr488Asn
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: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

1-1247840-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247840
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247840
    reference: chr 1
allele count: 3
allele frequency: 1.112099644128114e-4
allele num: 26976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*542A>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.713A>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.592A>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1736A>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1444A>T
  hgvsp: ENSP00000413493.1:p.Thr482Ser
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.670A>T
  hgvsp: ENSP00000464436.1:p.Thr224Ser
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1272A>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2396A>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1357A>T
  hgvsp: ENSP00000444672.1:p.Thr453Ser
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1150A>T
  hgvsp: ENSP00000400548.1:p.Thr384Ser
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2268-92A>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.692A>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1141A>T
  hgvsp: ENSP00000404886.1:p.Thr381Ser
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1462A>T
  hgvsp: ENSP00000445001.1:p.Thr488Ser
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*866A>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.241A>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.581A>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1832A>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1728A>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1378A>T
  hgvsp: ENSP00000392848.2:p.Thr460Ser
  variant of: http://identifiers.org/hgnc/26052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr488Ser
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD

1-1247841-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247841
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247841
    reference: chr 1
allele count: 1
allele frequency: 3.685141509433962e-5
allele num: 27136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.669C>T
  hgvsp: ENST00000421495.2:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2268-93C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1377C>T
  hgvsp: ENST00000450926.2:c.1377C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1443C>T
  hgvsp: ENST00000435064.1:c.1443C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1140C>T
  hgvsp: ENST00000419704.1:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1727C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2395C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.240C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1356C>T
  hgvsp: ENST00000545578.1:c.1356C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1831C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1271C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*541C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1461C>T
  hgvsp: ENST00000540437.1:c.1461C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1149C>T
  hgvsp: ENST00000411962.1:c.1149C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1735C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.591C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.580C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.712C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.691C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*865C>T
  variant of: http://identifiers.org/hgnc/26052
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly487Gly
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

1-1247843-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247843
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247843
    reference: chr 1
allele count: 1
allele frequency: 3.653368405670028e-5
allele num: 27372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1725G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1269G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1375G>C
  hgvsp: ENSP00000392848.2:p.Gly459Arg
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2268-95G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.689G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.578G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1441G>C
  hgvsp: ENSP00000413493.1:p.Gly481Arg
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.589G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.238G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1138G>C
  hgvsp: ENSP00000404886.1:p.Gly380Arg
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1354G>C
  hgvsp: ENSP00000444672.1:p.Gly452Arg
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1147G>C
  hgvsp: ENSP00000400548.1:p.Gly383Arg
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1459G>C
  hgvsp: ENSP00000445001.1:p.Gly487Arg
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.667G>C
  hgvsp: ENSP00000464436.1:p.Gly223Arg
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2393G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1733G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*863G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*539G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.710G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1829G>C
  variant of: http://identifiers.org/hgnc/26052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly487Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

1-1247843-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247843
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247843
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 27372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.689G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.238G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2393G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.589G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.667G>A
  hgvsp: ENSP00000464436.1:p.Gly223Ser
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1441G>A
  hgvsp: ENSP00000413493.1:p.Gly481Ser
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1829G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1269G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1733G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1147G>A
  hgvsp: ENSP00000400548.1:p.Gly383Ser
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1459G>A
  hgvsp: ENSP00000445001.1:p.Gly487Ser
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1354G>A
  hgvsp: ENSP00000444672.1:p.Gly452Ser
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1725G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1138G>A
  hgvsp: ENSP00000404886.1:p.Gly380Ser
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.578G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2268-95G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*863G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*539G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.710G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1375G>A
  hgvsp: ENSP00000392848.2:p.Gly459Ser
  variant of: http://identifiers.org/hgnc/26052
canonical: true
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly487Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD

1-1247844-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247844
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247844
    reference: chr 1
allele count: 1
allele frequency: 3.619778469557663e-5
allele num: 27626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1440C>T
  hgvsp: ENST00000435064.1:c.1440C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1268C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1828C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1458C>T
  hgvsp: ENST00000540437.1:c.1458C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.237C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1137C>T
  hgvsp: ENST00000419704.1:c.1137C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*538C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.588C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.709C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1732C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2268-96C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1724C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1374C>T
  hgvsp: ENST00000450926.2:c.1374C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.577C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2392C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1353C>T
  hgvsp: ENST00000545578.1:c.1353C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1146C>T
  hgvsp: ENST00000411962.1:c.1146C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*862C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.688C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.666C>T
  hgvsp: ENST00000421495.2:c.666C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His486His
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

1-1247844-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247844
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247844
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 27626
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1458C>A
  hgvsp: ENSP00000445001.1:p.His486Gln
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1724C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1268C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*862C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1440C>A
  hgvsp: ENSP00000413493.1:p.His480Gln
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.666C>A
  hgvsp: ENSP00000464436.1:p.His222Gln
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.709C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1146C>A
  hgvsp: ENSP00000400548.1:p.His382Gln
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.577C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1353C>A
  hgvsp: ENSP00000444672.1:p.His451Gln
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.688C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1137C>A
  hgvsp: ENSP00000404886.1:p.His379Gln
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2268-96C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*538C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1828C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1374C>A
  hgvsp: ENSP00000392848.2:p.His458Gln
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2392C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1732C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.588C>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.237C>A
  variant of: http://identifiers.org/hgnc/26052
canonical: true
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His486Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

1-1247846-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247846
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247846
    reference: chr 1
allele count: 2
allele frequency: 7.155635062611807e-5
allele num: 27950
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1351C>T
  hgvsp: ENSP00000444672.1:p.His451Tyr
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.586C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1135C>T
  hgvsp: ENSP00000404886.1:p.His379Tyr
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1266C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1722C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1372C>T
  hgvsp: ENSP00000392848.2:p.His458Tyr
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*860C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.664C>T
  hgvsp: ENSP00000464436.1:p.His222Tyr
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.575C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*536C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1456C>T
  hgvsp: ENSP00000445001.1:p.His486Tyr
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2390C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1730C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1826C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1438C>T
  hgvsp: ENSP00000413493.1:p.His480Tyr
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.235C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.686C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1144C>T
  hgvsp: ENSP00000400548.1:p.His382Tyr
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.707C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2268-98C>T
  variant of: http://identifiers.org/hgnc/26052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His486Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/1-1247853-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247853
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247853
    reference: chr 1
allele count: 1
allele frequency: 3.504099796762212e-5
allele num: 28538
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*529G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.228G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.679G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1449G>T
  hgvsp: ENST00000540437.1:c.1449G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1715G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*853G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1431G>T
  hgvsp: ENST00000435064.1:c.1431G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.657G>T
  hgvsp: ENST00000421495.2:c.657G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1137G>T
  hgvsp: ENST00000411962.1:c.1137G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1365G>T
  hgvsp: ENST00000450926.2:c.1365G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.568G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.579G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1344G>T
  hgvsp: ENST00000545578.1:c.1344G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1128G>T
  hgvsp: ENST00000419704.1:c.1128G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1723G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1819G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2383G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.700G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2268-105G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1259G>T
  variant of: http://identifiers.org/hgnc/26052
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg483Arg
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

1-1247854-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247854
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247854
    reference: chr 1
allele count: 2
allele frequency: 6.988120195667365e-5
allele num: 28620
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1136G>A
  hgvsp: ENSP00000400548.1:p.Arg379Gln
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1364G>A
  hgvsp: ENSP00000392848.2:p.Arg455Gln
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.227G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*528G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1448G>A
  hgvsp: ENSP00000445001.1:p.Arg483Gln
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1258G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1343G>A
  hgvsp: ENSP00000444672.1:p.Arg448Gln
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.699G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.567G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*852G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1430G>A
  hgvsp: ENSP00000413493.1:p.Arg477Gln
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2382G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1714G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2268-106G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.578G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1722G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.656G>A
  hgvsp: ENSP00000464436.1:p.Arg219Gln
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1818G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1127G>A
  hgvsp: ENSP00000404886.1:p.Arg376Gln
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.678G>A
  variant of: http://identifiers.org/hgnc/26052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg483Gln
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

1-1247855-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247855
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247855
    reference: chr 1
allele count: 2
allele frequency: 6.944926731022988e-5
allele num: 28798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.566C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.698C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*527C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1342C>T
  hgvsp: ENSP00000444672.1:p.Arg448Trp
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.655C>T
  hgvsp: ENSP00000464436.1:p.Arg219Trp
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1429C>T
  hgvsp: ENSP00000413493.1:p.Arg477Trp
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1817C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1713C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1721C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1257C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1135C>T
  hgvsp: ENSP00000400548.1:p.Arg379Trp
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1447C>T
  hgvsp: ENSP00000445001.1:p.Arg483Trp
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1363C>T
  hgvsp: ENSP00000392848.2:p.Arg455Trp
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1126C>T
  hgvsp: ENSP00000404886.1:p.Arg376Trp
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2268-107C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.577C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*851C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.226C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2381C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.677C>T
  variant of: http://identifiers.org/hgnc/26052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg483Trp
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

1-1247859-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247859
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247859
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 29324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1122G>C
  hgvsp: ENSP00000404886.1:p.Lys374Asn
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1425G>C
  hgvsp: ENSP00000413493.1:p.Lys475Asn
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1338G>C
  hgvsp: ENSP00000444672.1:p.Lys446Asn
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.694G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*847G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1359G>C
  hgvsp: ENSP00000392848.2:p.Lys453Asn
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1253G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1443G>C
  hgvsp: ENSP00000445001.1:p.Lys481Asn
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.651G>C
  hgvsp: ENSP00000464436.1:p.Lys217Asn
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1813G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*523G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.573G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.562G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1709G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.673G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.222G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1131G>C
  hgvsp: ENSP00000400548.1:p.Lys377Asn
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2377G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1717G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2268-111G>C
  variant of: http://identifiers.org/hgnc/26052
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys481Asn
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum

1-1247862-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247862
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247861
    reference: chr 1
allele count: 1
allele frequency: 3.382263410674423e-5
allele num: 29566
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1421delA
  hgvsp: ENSP00000413493.1:p.Lys474ArgfsTer10
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2373delA
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.218delA
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1439delA
  hgvsp: ENSP00000445001.1:p.Lys480ArgfsTer10
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.569delA
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*843delA
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1118delA
  hgvsp: ENSP00000404886.1:p.Lys373ArgfsTer10
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.669delA
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1713delA
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.647delA
  hgvsp: ENSP00000464436.1:p.Lys216ArgfsTer10
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2267+110delA
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1334delA
  hgvsp: ENSP00000444672.1:p.Lys445ArgfsTer10
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1705delA
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*519delA
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1127delA
  hgvsp: ENSP00000400548.1:p.Lys376ArgfsTer10
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1809delA
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1249delA
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1355delA
  hgvsp: ENSP00000392848.2:p.Lys452ArgfsTer10
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.558delA
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.690delA
  variant of: http://identifiers.org/hgnc/26052
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys480ArgfsTer10
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: CT
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

1-1247866-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247866
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247866
    reference: chr 1
allele count: 9
allele frequency: 3.027041571370914e-4
allele num: 29732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1702C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.555C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.215C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2370C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.644C>T
  hgvsp: ENSP00000464436.1:p.Ala215Val
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1352C>T
  hgvsp: ENSP00000392848.2:p.Ala451Val
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1331C>T
  hgvsp: ENSP00000444672.1:p.Ala444Val
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.687C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.666C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1115C>T
  hgvsp: ENSP00000404886.1:p.Ala372Val
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2267+107C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1436C>T
  hgvsp: ENSP00000445001.1:p.Ala479Val
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1124C>T
  hgvsp: ENSP00000400548.1:p.Ala375Val
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*516C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1806C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1246C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1418C>T
  hgvsp: ENSP00000413493.1:p.Ala473Val
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*840C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.566C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1710C>T
  variant of: http://identifiers.org/hgnc/26052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala479Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

1-1247867-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247867
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247867
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 29856
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.214G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1709G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1330G>A
  hgvsp: ENSP00000444672.1:p.Ala444Thr
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1123G>A
  hgvsp: ENSP00000400548.1:p.Ala375Thr
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1114G>A
  hgvsp: ENSP00000404886.1:p.Ala372Thr
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1435G>A
  hgvsp: ENSP00000445001.1:p.Ala479Thr
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1417G>A
  hgvsp: ENSP00000413493.1:p.Ala473Thr
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.686G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*839G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1245G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.554G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.565G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1351G>A
  hgvsp: ENSP00000392848.2:p.Ala451Thr
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.643G>A
  hgvsp: ENSP00000464436.1:p.Ala215Thr
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*515G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2267+106G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1805G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.665G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1701G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2369G>A
  variant of: http://identifiers.org/hgnc/26052
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala479Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

1-1247874-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247874
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247874
    reference: chr 1
allele count: 1
allele frequency: 3.253090435914119e-5
allele num: 30740
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1344C>T
  hgvsp: ENST00000450926.2:c.1344C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*832C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.207C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1694C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1702C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.636C>T
  hgvsp: ENST00000421495.2:c.636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1116C>T
  hgvsp: ENST00000411962.1:c.1116C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1238C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1107C>T
  hgvsp: ENST00000419704.1:c.1107C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1428C>T
  hgvsp: ENST00000540437.1:c.1428C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1798C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1323C>T
  hgvsp: ENST00000545578.1:c.1323C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1410C>T
  hgvsp: ENST00000435064.1:c.1410C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.558C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.679C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.658C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*508C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2362C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2267+99C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.547C>T
  variant of: http://identifiers.org/hgnc/26052
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu476Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

1-1247885-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247885
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247885
    reference: chr 1
allele count: 3
allele frequency: 9.400263207369807e-5
allele num: 31914
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*825-4G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1100-4G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.551-4G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1791-4G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1695-4G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1109-4G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2355-4G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.540-4G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1403-4G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*501-4G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1687-4G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.668G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1316-4G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.651-4G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.196G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1337-4G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2267+88G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.629-4G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1421-4G>A
  variant of: http://identifiers.org/hgnc/26052
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.1421-4G>A
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

1-1247886-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247886
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247886
    reference: chr 1
allele count: 5
allele frequency: 1.554919766140067e-4
allele num: 32156
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1337-5C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*825-5C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2355-5C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1695-5C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1403-5C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1791-5C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1109-5C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1100-5C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.651-5C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1316-5C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.667C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1231-5C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.551-5C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.540-5C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1421-5C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*501-5C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1687-5C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2267+87C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.629-5C>T
  variant of: http://identifiers.org/hgnc/26052
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.1421-5C>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

1-1247891-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247891
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247891
    reference: chr 1
allele count: 1
allele frequency: 3.054367745876604e-5
allele num: 32740
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.629-10T>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1403-10T>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1231-10T>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.190T>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*501-10T>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2267+82T>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2355-10T>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.540-10T>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.662T>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1687-10T>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1421-10T>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1695-10T>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1791-10T>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.651-10T>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1316-10T>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1100-10T>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1337-10T>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*825-10T>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1109-10T>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.551-10T>A
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

1-1247895-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247895
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247895
    reference: chr 1
allele count: 1
allele frequency: 2.952290977798772e-5
allele num: 33872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2355-14C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.658C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1687-14C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2267+78C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.651-14C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*501-14C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1231-14C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*825-14C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.186C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1791-14C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1421-14C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1109-14C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1403-14C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1695-14C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1337-14C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.540-14C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1100-14C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1316-14C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.629-14C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.551-14C>T
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

1-1247900-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247900
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247900
    reference: chr 1
allele count: 1
allele frequency: 2.858449576949463e-5
allele num: 34984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2355-19C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.551-19C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1687-19C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1695-19C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.181C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2267+73C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.540-19C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*825-19C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1791-19C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1100-19C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1403-19C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1231-19C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.651-19C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.629-19C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1316-19C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.653C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*501-19C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1337-19C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1421-19C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1109-19C>T
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

1-1247902-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247902
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247902
    reference: chr 1
allele count: 3
allele frequency: 8.48992528865746e-5
allele num: 35336
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1421-21C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.540-21C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1403-21C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1791-21C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*825-21C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*501-21C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2355-21C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.651-21C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.551-21C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1695-21C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2267+71C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.629-21C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.651C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1100-21C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1316-21C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.179C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1687-21C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1109-21C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1337-21C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1231-21C>T
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

1-1247904-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247904
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247904
    reference: chr 1
allele count: 1
allele frequency: 2.779321845469705e-5
allele num: 35980
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1316-23G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1403-23G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.540-23G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1687-23G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*825-23G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.177G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1231-23G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.629-23G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.649G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1791-23G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.651-23G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2355-23G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1695-23G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*501-23G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1100-23G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1109-23G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1337-23G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.551-23G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2267+69G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1421-23G>A
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

1-1247913-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247913
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247913
    reference: chr 1
allele count: 30
allele frequency: 8.117761662517588e-4
allele num: 36956
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*501-32C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.640C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1231-32C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1109-32C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.629-32C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1403-32C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.168C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.651-32C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1316-32C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1695-32C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*825-32C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1791-32C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.540-32C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2355-32C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1337-32C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.551-32C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2267+60C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1100-32C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1687-32C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1421-32C>T
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 1
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

1-1247915-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247915
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247915
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 37404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1231-34C>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2267+58C>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1421-34C>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2355-34C>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1695-34C>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*825-34C>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*501-34C>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.540-34C>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.551-34C>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1403-34C>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1100-34C>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1791-34C>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1687-34C>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.638C>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.166C>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.629-34C>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1316-34C>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1109-34C>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1337-34C>G
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.651-34C>G
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

1-1247917-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247917
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247917
    reference: chr 1
allele count: 5
allele frequency: 1.412988187418753e-4
allele num: 35386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1791-36C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1695-36C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1403-36C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.540-36C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.636C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2267+56C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.651-36C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1687-36C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2355-36C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1231-36C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1109-36C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1421-36C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*501-36C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.164C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1316-36C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*825-36C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1337-36C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.629-36C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1100-36C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.551-36C>T
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

1-1247920-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247920
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247920
    reference: chr 1
allele count: 3
allele frequency: 7.841497203199331e-5
allele num: 38258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1109-39C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2355-39C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1687-39C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1403-39C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.161C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1421-39C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*825-39C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1231-39C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1337-39C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1791-39C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.540-39C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1316-39C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1695-39C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.633C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.629-39C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1100-39C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2267+53C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*501-39C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.651-39C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.551-39C>T
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

1-1247927-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247927
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247927
    reference: chr 1
allele count: 5
allele frequency: 1.157675387821255e-4
allele num: 43190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*824+46C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1315+46C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1108+46C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.628+46C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.626C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1694+46C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2267+46C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.154C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.550+46C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1230+46C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1686+46C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1402+46C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.539+46C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1420+46C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1790+46C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2354+46C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.650+46C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1099+46C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*500+46C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1336+46C>T
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

1-1247929-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247929
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247929
    reference: chr 1
allele count: 1
allele frequency: 2.242957114659968e-5
allele num: 44584
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.628+44G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*824+44G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*500+44G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.624G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1099+44G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1420+44G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.650+44G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1315+44G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2267+44G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.152G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1402+44G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2354+44G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1790+44G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.539+44G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1694+44G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1230+44G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1108+44G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.550+44G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1686+44G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1336+44G>A
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

1-1247930-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247930
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247930
    reference: chr 1
allele count: 182
allele frequency: 3.944687676102129e-3
allele num: 46138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1315+43C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1099+43C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1108+43C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*824+43C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.628+43C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.650+43C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2267+43C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.623C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1694+43C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.539+43C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1686+43C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1336+43C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1402+43C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1790+43C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*500+43C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.151C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.550+43C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2354+43C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1230+43C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1420+43C>T
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 3
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

1-1247930-GCCTGCCCCGAGCAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247930
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247916
    reference: chr 1
allele count: 1
allele frequency: 2.167410811045125e-5
allele num: 46138
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: GCCTGCCCCGAGCAC
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-1247935-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247935
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247935
    reference: chr 1
allele count: 8
allele frequency: 1.538224888478696e-4
allele num: 52008
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.618G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1315+38G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.650+38G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.146G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2267+38G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1686+38G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1790+38G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.539+38G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1099+38G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1336+38G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1420+38G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1108+38G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2354+38G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1694+38G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1402+38G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*824+38G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1230+38G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.628+38G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.550+38G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*500+38G>A
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

1-1247938-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247938
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247938
    reference: chr 1
allele count: 3
allele frequency: 5.37364763201261e-5
allele num: 55828
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2267+35G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.615G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.539+35G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.143G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1790+35G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1402+35G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.550+35G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2354+35G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.628+35G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.650+35G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*824+35G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1694+35G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1420+35G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1686+35G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1230+35G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*500+35G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1108+35G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1336+35G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1315+35G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1099+35G>A
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

1-1247939-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247939
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247939
    reference: chr 1
allele count: 55
allele frequency: 9.427494000685636e-4
allele num: 58340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2354+34C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.614C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.142C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.628+34C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1336+34C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1790+34C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*824+34C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1686+34C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1694+34C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.650+34C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1315+34C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*500+34C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.550+34C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1108+34C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1420+34C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1402+34C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.539+34C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1099+34C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1230+34C>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2267+34C>T
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-1247940-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247940
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247940
    reference: chr 1
allele count: 1
allele frequency: 1.65218253312626e-5
allele num: 60526
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1686+33T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1402+33T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1694+33T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.650+33T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.613T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1099+33T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1230+33T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.141T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1315+33T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1420+33T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1790+33T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*824+33T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1336+33T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.628+33T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*500+33T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1108+33T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.550+33T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2267+33T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2354+33T>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.539+33T>C
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD

1-1247942-C-CACCCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247942
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247947
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 63314
alternate allele: CACCCT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1790+26_1790+30dupAGGGT
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1686+26_*1686+30dupAGGGT
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1315+26_1315+30dupAGGGT
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1108+26_1108+30dupAGGGT
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.606_610dupAGGGT
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1694+26_1694+30dupAGGGT
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*500+26_*500+30dupAGGGT
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.539+26_539+30dupAGGGT
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.134_138dupAGGGT
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1402+26_1402+30dupAGGGT
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1420+26_1420+30dupAGGGT
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2354+26_2354+30dupAGGGT
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*824+26_*824+30dupAGGGT
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1230+26_*1230+30dupAGGGT
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2267+26_2267+30dupAGGGT
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1336+26_1336+30dupAGGGT
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1099+26_1099+30dupAGGGT
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.650+26_650+30dupAGGGT
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.628+26_628+30dupAGGGT
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.550+26_550+30dupAGGGT
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

1-1247943-A-ACCCTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247943
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247948
    reference: chr 1
allele count: 45
allele frequency: 6.895917616770872e-4
allele num: 65256
alternate allele: ACCCTG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1315+25_1315+29dupCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1686+25_*1686+29dupCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*824+25_*824+29dupCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.133_137dupCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1420+25_1420+29dupCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1336+25_1336+29dupCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.650+25_650+29dupCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2354+25_2354+29dupCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*500+25_*500+29dupCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.539+25_539+29dupCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.550+25_550+29dupCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1099+25_1099+29dupCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.605_609dupCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1790+25_1790+29dupCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1108+25_1108+29dupCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1402+25_1402+29dupCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2267+25_2267+29dupCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1230+25_*1230+29dupCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1694+25_1694+29dupCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.628+25_628+29dupCAGGG
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

1-1247943-A-ACCCTGCCCTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247943
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247953
    reference: chr 1
allele count: 328
allele frequency: 5.026357729557436e-3
allele num: 65256
alternate allele: ACCCTGCCCTG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 3.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 2
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

1-1247943-ACCCTG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247943
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247938
    reference: chr 1
allele count: 3
allele frequency: 4.597278411180581e-5
allele num: 65256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1108+25_1108+29delCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1402+25_1402+29delCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1099+25_1099+29delCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2354+25_2354+29delCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1336+25_1336+29delCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.133_137delCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1230+25_*1230+29delCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1694+25_1694+29delCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*824+25_*824+29delCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1686+25_*1686+29delCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.605_609delCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.539+25_539+29delCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.650+25_650+29delCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.628+25_628+29delCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1790+25_1790+29delCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1420+25_1420+29delCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*500+25_*500+29delCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1315+25_1315+29delCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.550+25_550+29delCAGGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2267+25_2267+29delCAGGG
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: ACCCTG
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/1-1247944-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247944
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247944
    reference: chr 1
allele count: 2
allele frequency: 3.084706027515578e-5
allele num: 64836
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1402+29G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2354+29G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1108+29G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.628+29G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1686+29G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*500+29G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1099+29G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2267+29G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1315+29G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.650+29G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.137G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.550+29G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1694+29G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.609G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.539+29G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1230+29G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1420+29G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*824+29G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1790+29G>T
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1336+29G>T
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

1-1247944-C-CCCTGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247944
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247949
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 64836
alternate allele: CCCTGA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2354+28_2354+29insTCAGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1694+28_1694+29insTCAGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1099+28_1099+29insTCAGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*500+28_*500+29insTCAGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.628+28_628+29insTCAGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1315+28_1315+29insTCAGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.136_137insTCAGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.539+28_539+29insTCAGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1402+28_1402+29insTCAGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.650+28_650+29insTCAGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1230+28_*1230+29insTCAGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1420+28_1420+29insTCAGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.608_609insTCAGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2267+28_2267+29insTCAGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1108+28_1108+29insTCAGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.550+28_550+29insTCAGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1686+28_*1686+29insTCAGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1336+28_1336+29insTCAGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*824+28_*824+29insTCAGG
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1790+28_1790+29insTCAGG
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

1-1247954-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247954
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247954
    reference: chr 1
allele count: 1
allele frequency: 1.284323546787907e-5
allele num: 77862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1099+19G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1420+19G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.550+19G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1686+19G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1315+19G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.628+19G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*824+19G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000432777
  ensembl transcript: ENST00000528879
  gene symbol: CPSF3L
  hgvsc: ENST00000528879.1:c.*500+19G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1790+19G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2354+19G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000485710
  gene symbol: CPSF3L
  hgvsc: ENST00000485710.1:n.539+19G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000462432
  gene symbol: CPSF3L
  hgvsc: ENST00000462432.1:n.2267+19G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1230+19G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.599G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.127G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000392848
  ensembl transcript: ENST00000450926
  gene symbol: CPSF3L
  hgvsc: ENST00000450926.2:c.1336+19G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000400548
  ensembl transcript: ENST00000411962
  gene symbol: CPSF3L
  hgvsc: ENST00000411962.1:c.1108+19G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000470030
  gene symbol: CPSF3L
  hgvsc: ENST00000470030.2:n.1694+19G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.650+19G>A
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1402+19G>A
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

1-1247960-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1247960
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 1247960
    reference: chr 1
allele count: 4
allele frequency: 4.536999228710131e-5
allele num: 88164
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000323275
  gene symbol: CPSF3L
  hgvsc: ENST00000323275.6:n.1790+13G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000444672
  ensembl transcript: ENST00000545578
  gene symbol: CPSF3L
  hgvsc: ENST00000545578.1:c.1315+13G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525164
  gene symbol: CPSF3L
  hgvsc: ENST00000525164.1:n.650+13G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000433930
  ensembl transcript: ENST00000458452
  gene symbol: CPSF3L
  hgvsc: ENST00000458452.3:c.*1686+13G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431214
  ensembl transcript: ENST00000532772
  gene symbol: CPSF3L
  hgvsc: ENST00000532772.1:c.*824+13G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000478641
  gene symbol: CPSF3L
  hgvsc: ENST00000478641.1:n.2354+13G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000404886
  ensembl transcript: ENST00000419704
  gene symbol: CPSF3L
  hgvsc: ENST00000419704.1:c.1099+13G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000445001
  ensembl transcript: ENST00000540437
  gene symbol: CPSF3L
  hgvsc: ENST00000540437.1:c.1420+13G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000413493
  ensembl transcript: ENST00000435064
  gene symbol: CPSF3L
  hgvsc: ENST00000435064.1:c.1402+13G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000525769
  gene symbol: CPSF3L
  hgvsc: ENST00000525769.1:n.550+13G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000464436
  ensembl transcript: ENST00000421495
  gene symbol: CPSF3L
  hgvsc: ENST00000421495.2:c.628+13G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000461514
  gene symbol: CPSF3L
  hgvsc: ENST00000461514.2:n.593G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127054
  ensembl transcript: ENST00000497304
  gene symbol: CPSF3L
  hgvsc: ENST00000497304.2:n.121G>C
  variant of: http://identifiers.org/hgnc/26052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127054
  ensembl protein: ENSP00000431952
  ensembl transcript: ENST00000527098
  gene symbol: CPSF3L
  hgvsc: ENST00000527098.1:c.*1230+13G>C
  variant of: http://identifiers.org/hgnc/26052
canonical: false
consequence: non coding transcript exon
filter: PASS
num of homozygotes: 0
reference allele: C

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

GenotypeDepth
all individuals: 648
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26250
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 20079
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2617
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 418
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6016
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2955
bin: 1.25e1
variant carriers: 1

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

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

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 19236
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3703
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19536
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 280
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1199
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4524
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7626
bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.15473441108545e-3
allele num: 866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11068
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3126
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8122
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 4.99167e5

QD
type: SiteQuality
SIO_000300: 1.142e1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.24e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

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

GenotypeDepth
all individuals: 2955
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2617
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6016
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 648
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26250
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20079
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 418
bin: 3.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 618
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19536
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19236
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1199
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7626
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4524
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3703
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11068
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3126
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.99167e5

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.24e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.142e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

GenotypeDepth
all individuals: 2658
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6054
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26756
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 554
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19703
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 421
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
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variant carriers: 0

GenotypeDepth
all individuals: 2910
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeDepth
all individuals: 0
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variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19195
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3727
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 999
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20718
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 99
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7826
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 617
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 121
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3553
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.34192037470726e-3
allele num: 854
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8130
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11196
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

DP
type: SiteQuality
SIO_000300: 5.02522e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.76e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26838
bin: 7.5e0
variant carriers: 1

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

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

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
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variant carriers: 0

GenotypeDepth
all individuals: 542
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19659
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2671
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2889
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6031
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4406
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19981
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3632
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19068
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7768
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variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3090
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11110
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.76e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.159e0

DP
type: SiteQuality
SIO_000300: 5.02212e5

FS
type: SiteQuality
SIO_000300: 1.718e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

VQSLOD
type: SiteQuality
SIO_000300: -2.976e0

QD
type: SiteQuality
SIO_000300: 2.69e0

GenotypeDepth
all individuals: 1
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 517
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 5.75e1
variant carriers: 3

GenotypeDepth
all individuals: 38
bin: 3.75e1
variant carriers: 4

GenotypeDepth
all individuals: 1
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 27061
bin: 7.5e0
variant carriers: 20

GenotypeDepth
all individuals: 5985
bin: 2.25e1
variant carriers: 4

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

GenotypeDepth
all individuals: 19414
bin: 2.5e0
variant carriers: 2

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

GenotypeDepth
all individuals: 2926
bin: 1.25e1
variant carriers: 13

GenotypeDepth
all individuals: 434
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2719
bin: 2.75e1
variant carriers: 2

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

GenotypeDepth
all individuals: 8
bin: 9.75e1
variant carriers: 6

GenotypeDepth
all individuals: 2
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 3
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 5
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 16
bin: 4.25e1
variant carriers: 5

GenotypeQuality
all individuals: 758
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 9.75e1
variant carriers: 46

GenotypeQuality
all individuals: 7823
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 26
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 20402
bin: 2.25e1
variant carriers: 4

GenotypeQuality
all individuals: 3565
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 150
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 85
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4226
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1209
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 801
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 117
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 18779
bin: 7.5e0
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 4.608294930875576e-3
allele num: 868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.230920728705071e-4
allele num: 8124
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11096
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1264
num of homozygotes: 0

African
type: Population
allele count: 43
allele frequency: 1.386202450032237e-2
allele num: 3102
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.83e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.58e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

QD
type: SiteQuality
SIO_000300: 1.294e1

DP
type: SiteQuality
SIO_000300: 5.06007e5

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.18e-1

GenotypeDepth
all individuals: 440
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2940
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27250
bin: 7.5e0
variant carriers: 1

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

GenotypeDepth
all individuals: 2737
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 19237
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 501
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 6.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6019
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 91
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3473
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3549
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18667
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 21454
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7960
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.942944017170452e-5
allele num: 11182
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3092
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.131221719457014e-3
allele num: 884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.229105211406096e-4
allele num: 8136
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.71e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

FS
type: SiteQuality
SIO_000300: 5.34e-1

DP
type: SiteQuality
SIO_000300: 5.06957e5

QD
type: SiteQuality
SIO_000300: 1.102e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000127054
ensembl protein: ENSP00000464436
ensembl transcript: ENST00000421495
gene symbol: CPSF3L
hgvsc: ENST00000421495.2:c.690+3G>C
variant of: http://identifiers.org/hgnc/26052

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

GenotypeDepth
all individuals: 28309
bin: 7.5e0
variant carriers: 5

GenotypeDepth
all individuals: 3091
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2784
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 18142
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6045
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 423
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 438
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22635
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17519
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 856
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3848
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3178
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 980
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7997
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 213
bin: 3.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 912
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1264
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.764602082230457e-4
allele num: 11334
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3110
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 5.14576e5

QD
type: SiteQuality
SIO_000300: 1.41e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.52e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.316e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.46e-2

FS
type: SiteQuality
SIO_000300: 1.531e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

GenotypeDepth
all individuals: 417
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3118
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 451
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17910
bin: 2.5e0
variant carriers: 0

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

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

GenotypeDepth
all individuals: 6061
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28519
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 3.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 2770
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1072
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17231
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4007
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3091
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 628
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7974
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22742
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3100
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 922
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.771929824561403e-5
allele num: 11400
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.45e-2

DP
type: SiteQuality
SIO_000300: 5.1619e5

VQSLOD
type: SiteQuality
SIO_000300: -2.356e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.54e0

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000127054
ensembl transcript: ENST00000478641
gene symbol: CPSF3L
hgvsc: ENST00000478641.1:n.2416C>T
variant of: http://identifiers.org/hgnc/26052

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000127054
ensembl transcript: ENST00000497304
gene symbol: CPSF3L
hgvsc: ENST00000497304.2:n.261C>T
variant of: http://identifiers.org/hgnc/26052

GenotypeDepth
all individuals: 17601
bin: 2.5e0
variant carriers: 2

GenotypeDepth
all individuals: 28800
bin: 7.5e0
variant carriers: 7

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

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 36
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6069
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2786
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 409
bin: 1.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3176
bin: 1.25e1
variant carriers: 5

GenotypeDepth
all individuals: 453
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 1

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

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

GenotypeDepth
all individuals: 4
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 206
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2956
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8042
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 824
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 17015
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 84
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23798
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 149
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3366
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 10
bin: 9.25e1
variant carriers: 5

GenotypeQuality
all individuals: 98
bin: 7.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.215434083601286e-4
allele num: 3110
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 932
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 6.979584714709475e-4
allele num: 11462
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.38e-2

QD
type: SiteQuality
SIO_000300: 1.087e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

DP
type: SiteQuality
SIO_000300: 5.194e5

VQSLOD
type: SiteQuality
SIO_000300: 2.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

FS
type: SiteQuality
SIO_000300: 9.359999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000127054
ensembl transcript: ENST00000478641
gene symbol: CPSF3L
hgvsc: ENST00000478641.1:n.2415G>A
variant of: http://identifiers.org/hgnc/26052

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000127054
ensembl transcript: ENST00000461514
gene symbol: CPSF3L
hgvsc: ENST00000461514.2:n.732G>A
variant of: http://identifiers.org/hgnc/26052

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

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 17445
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28996
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 2799
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 394
bin: 1.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6082
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3170
bin: 1.25e1
variant carriers: 3

GenotypeDepth
all individuals: 444
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 210
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8111
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24371
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3216
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16864
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 833
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2881
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 148
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 5

Other
type: Population
allele count: 1
allele frequency: 4.629629629629629e-3
allele num: 216
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.04602510460251e-3
allele num: 956
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 3.448870494912916e-4
allele num: 11598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3120
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1280
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.42e-1

DP
type: SiteQuality
SIO_000300: 5.2052e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.23e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.245e1

FS
type: SiteQuality
SIO_000300: 9.99e-1

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

GenotypeDepth
all individuals: 3347
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29618
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 34
bin: 3.75e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 2777
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 374
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 16751
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6094
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 936
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25392
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16170
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2671
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3172
bin: 1.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8055
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11776
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 994
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8238
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.16e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.25236e5

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3390
bin: 1.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 3
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 29780
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 2788
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16539
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6108
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 444
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 379
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 4.25e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 212
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16006
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8097
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2816
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 151
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 6
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25981
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2582
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3120
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 992
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.212121212121212e-4
allele num: 8250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.468834688346883e-5
allele num: 11808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.202999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

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

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

European (Non-Finnish)
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African
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South Asian
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East Asian
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Other
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European (Finnish)
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InbreedingCoeff
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QD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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DP
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FS
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ClippingRankSum
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MQ
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VQSLOD
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GenotypeDepth
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GenotypeQuality
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East Asian
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Latino
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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DP
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FS
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VQSLOD
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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European (Non-Finnish)
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African
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Latino
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South Asian
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QD
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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DP
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FS
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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South Asian
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European (Finnish)
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Other
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FS
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DP
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VQSLOD
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BaseQRankSum
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MQ
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QD
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Latino
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East Asian
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European (Finnish)
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Other
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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MQ
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FS
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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East Asian
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Other
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European (Finnish)
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Latino
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European (Non-Finnish)
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FS
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VQSLOD
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InbreedingCoeff
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MQ
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Latino
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European (Finnish)
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European (Non-Finnish)
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VQSLOD
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QD
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ReadPosRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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FS
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DP
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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African
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South Asian
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European (Finnish)
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European (Non-Finnish)
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DP
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ClippingRankSum
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QD
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InbreedingCoeff
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FS
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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East Asian
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FS
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MQ
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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Latino
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European (Non-Finnish)
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Other
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South Asian
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QD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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FS
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DP
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MQ
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InbreedingCoeff
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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East Asian
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African
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Latino
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Other
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European (Finnish)
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QD
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VQSLOD
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FS
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InbreedingCoeff
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MQ
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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DP
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SIO_000300: 5.55862e5

GenotypeDepth
all individuals: 785
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2561
bin: 2.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 11908
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 414
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5729
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32543
bin: 7.5e0
variant carriers: 3

GenotypeDepth
all individuals: 2
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 5725
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7451
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29675
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3152
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1217
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2247
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11746
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 79
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1615
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 8
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14170
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3228
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1416
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8810
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 5.829e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.749e0

DP
type: SiteQuality
SIO_000300: 5.57442e5

FS
type: SiteQuality
SIO_000300: 1.0665e1

VQSLOD
type: SiteQuality
SIO_000300: -1.405e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 32385
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2482
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 2
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 965
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6439
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11593
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5379
bin: 2.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 153
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3731
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 733
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7030
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28989
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1413
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2495
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11502
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1805
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 141
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8922
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1516
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.082614056720099e-4
allele num: 3244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.046e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.46e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

DP
type: SiteQuality
SIO_000300: 5.56582e5

QD
type: SiteQuality
SIO_000300: 4.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.696e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.578e0

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000127054
ensembl protein: ENSP00000431952
ensembl transcript: ENST00000527098
gene symbol: CPSF3L
hgvsc: ENST00000527098.1:c.*1231-4G>A
variant of: http://identifiers.org/hgnc/26052

GenotypeDepth
all individuals: 2250
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4970
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 7547
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10646
bin: 2.5e0
variant carriers: 1

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

GenotypeDepth
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1327
bin: 1.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 32486
bin: 7.5e0
variant carriers: 1

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

GenotypeDepth
all individuals: 2
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 381
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2132
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1640
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3441
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29618
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2623
bin: 1.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 101
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6402
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10746
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 164
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 660
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.94149624644059e-4
allele num: 15452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3222
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8970
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1770
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1698
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.0e0

DP
type: SiteQuality
SIO_000300: 5.5881e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.36e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.147e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000127054
ensembl transcript: ENST00000497304
gene symbol: CPSF3L
hgvsc: ENST00000497304.2:n.195C>T
variant of: http://identifiers.org/hgnc/26052

GenotypeDepth
all individuals: 10484
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7789
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4868
bin: 2.25e1
variant carriers: 2

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

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1378
bin: 1.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 2177
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32515
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 385
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 948
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3475
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29778
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2215
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6218
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10568
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2605
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1714
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1768
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.278118609406953e-4
allele num: 15648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1740
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.092145949288807e-4
allele num: 3234
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.233139794551139e-4
allele num: 8956
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.274e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.36e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.79e-1

DP
type: SiteQuality
SIO_000300: 5.58438e5

MQRankSum
type: SiteQuality
SIO_000300: -2.79e-1

QD
type: SiteQuality
SIO_000300: 1.234e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

GenotypeDepth
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8387
bin: 1.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 10022
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4555
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 4.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 32717
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1656
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 313
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1932
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2398
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10143
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30340
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1870
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3607
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2591
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5664
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1848
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.212723658051689e-5
allele num: 16096
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

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

African
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Other
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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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ReadPosRankSum
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FS
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BaseQRankSum
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DP
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MQ
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MQRankSum
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VQSLOD
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QD
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 2

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

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

East Asian
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Latino
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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European (Finnish)
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South Asian
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BaseQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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DP
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VQSLOD
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MQ
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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East Asian
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European (Non-Finnish)
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Latino
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African
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South Asian
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DP
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VQSLOD
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ReadPosRankSum
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MQ
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InbreedingCoeff
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FS
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BaseQRankSum
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MQRankSum
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SIO_000300: -2.219e0

ClippingRankSum
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SIO_000300: 7.88e-1

QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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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: 50

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Finnish)
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African
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South Asian
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European (Non-Finnish)
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East Asian
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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FS
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QD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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South Asian
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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MQRankSum
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VQSLOD
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DP
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ClippingRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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QD
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Finnish)
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East Asian
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Other
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Latino
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European (Non-Finnish)
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InbreedingCoeff
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ClippingRankSum
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FS
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ReadPosRankSum
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MQRankSum
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DP
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MQ
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VQSLOD
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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East Asian
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Latino
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European (Finnish)
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ClippingRankSum
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VQSLOD
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MQ
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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Other
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European (Finnish)
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MQRankSum
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VQSLOD
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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East Asian
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South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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DP
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MQ
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ClippingRankSum
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QD
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VQSLOD
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ReadPosRankSum
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FS
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MQRankSum
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InbreedingCoeff
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