14-70235980-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70235980
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70235981
    reference: chr 14
allele count: 2
allele frequency: 1.653685237551884e-5
allele num: 120942
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.366+13dupA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452090
  ensembl transcript: ENST00000555349
  gene symbol: SRSF5
  hgvsc: ENST00000555349.1:c.*4dupA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.869+13dupA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452449
  ensembl transcript: ENST00000553369
  gene symbol: SRSF5
  hgvsc: ENST00000553369.1:c.366+13dupA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.366+13dupA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000450918
  ensembl transcript: ENST00000554021
  gene symbol: SRSF5
  hgvsc: ENST00000554021.1:c.366+13dupA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.751+13dupA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.607dupA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.366+13dupA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.846dupA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.366+13dupA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.357+13dupA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000402734
  ensembl transcript: ENST00000451983
  gene symbol: SRSF5
  hgvsc: ENST00000451983.2:c.366+13dupA
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

14-70235980-TAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70235980
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70235978
    reference: chr 14
allele count: 1
allele frequency: 8.268426187759421e-6
allele num: 120942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000450918
  ensembl transcript: ENST00000554021
  gene symbol: SRSF5
  hgvsc: ENST00000554021.1:c.366+14_366+15delCA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.357+14_357+15delCA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000402734
  ensembl transcript: ENST00000451983
  gene symbol: SRSF5
  hgvsc: ENST00000451983.2:c.366+14_366+15delCA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.366+14_366+15delCA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452090
  ensembl transcript: ENST00000555349
  gene symbol: SRSF5
  hgvsc: ENST00000555349.1:c.*5_*6delCA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452449
  ensembl transcript: ENST00000553369
  gene symbol: SRSF5
  hgvsc: ENST00000553369.1:c.366+14_366+15delCA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.366+14_366+15delCA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.847_848delCA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.366+14_366+15delCA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.608_609delCA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.751+14_751+15delCA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.869+14_869+15delCA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.366+14_366+15delCA
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: TAC
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-70235981-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70235981
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70235980
    reference: chr 14
allele count: 1
allele frequency: 8.271024945411235e-6
allele num: 120904
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.366+14delC
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452449
  ensembl transcript: ENST00000553369
  gene symbol: SRSF5
  hgvsc: ENST00000553369.1:c.366+14delC
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.366+14delC
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.847delC
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000450918
  ensembl transcript: ENST00000554021
  gene symbol: SRSF5
  hgvsc: ENST00000554021.1:c.366+14delC
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.366+14delC
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.357+14delC
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452090
  ensembl transcript: ENST00000555349
  gene symbol: SRSF5
  hgvsc: ENST00000555349.1:c.*5delC
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.366+14delC
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.869+14delC
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.608delC
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000402734
  ensembl transcript: ENST00000451983
  gene symbol: SRSF5
  hgvsc: ENST00000451983.2:c.366+14delC
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.751+14delC
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: AC
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

14-70235982-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70235982
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70235982
    reference: chr 14
allele count: 6
allele frequency: 4.963518141658808e-5
allele num: 120882
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.847C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.366+14C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452449
  ensembl transcript: ENST00000553369
  gene symbol: SRSF5
  hgvsc: ENST00000553369.1:c.366+14C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000450918
  ensembl transcript: ENST00000554021
  gene symbol: SRSF5
  hgvsc: ENST00000554021.1:c.366+14C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.751+14C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.869+14C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.608C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.366+14C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452090
  ensembl transcript: ENST00000555349
  gene symbol: SRSF5
  hgvsc: ENST00000555349.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.357+14C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.366+14C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.366+14C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000402734
  ensembl transcript: ENST00000451983
  gene symbol: SRSF5
  hgvsc: ENST00000451983.2:c.366+14C>T
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

14-70235987-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70235987
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70235987
    reference: chr 14
allele count: 1
allele frequency: 8.294349888855711e-6
allele num: 120564
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000450918
  ensembl transcript: ENST00000554021
  gene symbol: SRSF5
  hgvsc: ENST00000554021.1:c.366+19T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.613T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.366+19T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.357+19T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.869+19T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.852T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.366+19T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452449
  ensembl transcript: ENST00000553369
  gene symbol: SRSF5
  hgvsc: ENST00000553369.1:c.366+19T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452090
  ensembl transcript: ENST00000555349
  gene symbol: SRSF5
  hgvsc: ENST00000555349.1:c.*10T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.366+19T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.366+19T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000402734
  ensembl transcript: ENST00000451983
  gene symbol: SRSF5
  hgvsc: ENST00000451983.2:c.366+19T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.751+19T>A
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

14-70235988-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70235988
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70235988
    reference: chr 14
allele count: 1
allele frequency: 8.293386853323161e-6
allele num: 120578
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.614T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.366+20T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.366+20T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.366+20T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452090
  ensembl transcript: ENST00000555349
  gene symbol: SRSF5
  hgvsc: ENST00000555349.1:c.*11T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000402734
  ensembl transcript: ENST00000451983
  gene symbol: SRSF5
  hgvsc: ENST00000451983.2:c.366+20T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452449
  ensembl transcript: ENST00000553369
  gene symbol: SRSF5
  hgvsc: ENST00000553369.1:c.366+20T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.853T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.357+20T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.869+20T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.366+20T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.751+20T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000450918
  ensembl transcript: ENST00000554021
  gene symbol: SRSF5
  hgvsc: ENST00000554021.1:c.366+20T>C
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ

14-70235995-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70235995
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70235995
    reference: chr 14
allele count: 28
allele frequency: 2.326779570875368e-4
allele num: 120338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.357+27T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452090
  ensembl transcript: ENST00000555349
  gene symbol: SRSF5
  hgvsc: ENST00000555349.1:c.*18T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.366+27T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.860T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.621T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000450918
  ensembl transcript: ENST00000554021
  gene symbol: SRSF5
  hgvsc: ENST00000554021.1:c.366+27T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452449
  ensembl transcript: ENST00000553369
  gene symbol: SRSF5
  hgvsc: ENST00000553369.1:c.366+27T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.751+27T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.869+27T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.366+27T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.366+27T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.366+27T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000402734
  ensembl transcript: ENST00000451983
  gene symbol: SRSF5
  hgvsc: ENST00000451983.2:c.366+27T>C
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36154
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14151
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

14-70236000-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70236000
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70236000
    reference: chr 14
allele count: 1
allele frequency: 8.330417687142833e-6
allele num: 120042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.865A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.869+32A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452090
  ensembl transcript: ENST00000555349
  gene symbol: SRSF5
  hgvsc: ENST00000555349.1:c.*23A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.626A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000450918
  ensembl transcript: ENST00000554021
  gene symbol: SRSF5
  hgvsc: ENST00000554021.1:c.366+32A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000402734
  ensembl transcript: ENST00000451983
  gene symbol: SRSF5
  hgvsc: ENST00000451983.2:c.366+32A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.357+32A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.751+32A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.366+32A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452449
  ensembl transcript: ENST00000553369
  gene symbol: SRSF5
  hgvsc: ENST00000553369.1:c.366+32A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.366+32A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.366+32A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.366+32A>T
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

14-70236003-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70236003
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70236003
    reference: chr 14
allele count: 1
allele frequency: 8.340979230961715e-6
allele num: 119890
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.869+35T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.629T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000402734
  ensembl transcript: ENST00000451983
  gene symbol: SRSF5
  hgvsc: ENST00000451983.2:c.366+35T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452449
  ensembl transcript: ENST00000553369
  gene symbol: SRSF5
  hgvsc: ENST00000553369.1:c.366+35T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.868T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.366+35T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452090
  ensembl transcript: ENST00000555349
  gene symbol: SRSF5
  hgvsc: ENST00000555349.1:c.*26T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.751+35T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.357+35T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000450918
  ensembl transcript: ENST00000554021
  gene symbol: SRSF5
  hgvsc: ENST00000554021.1:c.366+35T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.366+35T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.366+35T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.366+35T>G
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

14-70236006-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70236006
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70236006
    reference: chr 14
allele count: 6
allele frequency: 5.014961301215292e-5
allele num: 119642
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.366+38C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.366+38C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.751+38C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.871C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452449
  ensembl transcript: ENST00000553369
  gene symbol: SRSF5
  hgvsc: ENST00000553369.1:c.366+38C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.357+38C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.366+38C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452090
  ensembl transcript: ENST00000555349
  gene symbol: SRSF5
  hgvsc: ENST00000555349.1:c.*29C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000450918
  ensembl transcript: ENST00000554021
  gene symbol: SRSF5
  hgvsc: ENST00000554021.1:c.366+38C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.869+38C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000402734
  ensembl transcript: ENST00000451983
  gene symbol: SRSF5
  hgvsc: ENST00000451983.2:c.366+38C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.632C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.366+38C>T
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-70236012-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70236012
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70236012
    reference: chr 14
allele count: 13
allele frequency: 1.08895962472776e-4
allele num: 119380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.366+44A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.869+44A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.366+44A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.366+44A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.877A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.751+44A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.366+44A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.638A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452090
  ensembl transcript: ENST00000555349
  gene symbol: SRSF5
  hgvsc: ENST00000555349.1:c.*35A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.357+44A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000450918
  ensembl transcript: ENST00000554021
  gene symbol: SRSF5
  hgvsc: ENST00000554021.1:c.366+44A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000402734
  ensembl transcript: ENST00000451983
  gene symbol: SRSF5
  hgvsc: ENST00000451983.2:c.366+44A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452449
  ensembl transcript: ENST00000553369
  gene symbol: SRSF5
  hgvsc: ENST00000553369.1:c.366+44A>T
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27578
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11975
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8685
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

14-70236014-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70236014
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70236014
    reference: chr 14
allele count: 1
allele frequency: 8.375349670848758e-6
allele num: 119398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.366+46A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.366+46A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000402734
  ensembl transcript: ENST00000451983
  gene symbol: SRSF5
  hgvsc: ENST00000451983.2:c.366+46A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452090
  ensembl transcript: ENST00000555349
  gene symbol: SRSF5
  hgvsc: ENST00000555349.1:c.*37A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.366+46A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.879A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.869+46A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.366+46A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.640A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.751+46A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.357+46A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452449
  ensembl transcript: ENST00000553369
  gene symbol: SRSF5
  hgvsc: ENST00000553369.1:c.366+46A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000450918
  ensembl transcript: ENST00000554021
  gene symbol: SRSF5
  hgvsc: ENST00000554021.1:c.366+46A>G
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9506
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

14-70236019-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70236019
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70236019
    reference: chr 14
allele count: 2
allele frequency: 1.681209125603134e-5
allele num: 118962
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.751+51T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000402734
  ensembl transcript: ENST00000451983
  gene symbol: SRSF5
  hgvsc: ENST00000451983.2:c.366+51T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.645T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.869+51T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452449
  ensembl transcript: ENST00000553369
  gene symbol: SRSF5
  hgvsc: ENST00000553369.1:c.366+51T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.366+51T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.366+51T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.884T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000450918
  ensembl transcript: ENST00000554021
  gene symbol: SRSF5
  hgvsc: ENST00000554021.1:c.366+51T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.366+51T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452090
  ensembl transcript: ENST00000555349
  gene symbol: SRSF5
  hgvsc: ENST00000555349.1:c.*42T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.366+51T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.357+51T>A
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10075
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11705
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

14-70236220-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70236220
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70236220
    reference: chr 14
allele count: 1
allele frequency: 9.187798603454613e-5
allele num: 10884
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.357+252T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.367-8T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.1085T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.366+252T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.366+252T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452449
  ensembl transcript: ENST00000553369
  gene symbol: SRSF5
  hgvsc: ENST00000553369.1:c.367-8T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.846T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000402734
  ensembl transcript: ENST00000451983
  gene symbol: SRSF5
  hgvsc: ENST00000451983.2:c.367-8T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000450918
  ensembl transcript: ENST00000554021
  gene symbol: SRSF5
  hgvsc: ENST00000554021.1:c.367-8T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.869+252T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.366+252T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.751+252T>C
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.367-8T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

14-70237133-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237133
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237133
    reference: chr 14
allele count: 1
allele frequency: 8.410428931875526e-6
allele num: 118900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.367-51T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.367-51T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.298-51T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.367-51T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1759T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.358-51T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.870-51T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*855T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.1998T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.752-51T>A
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14183
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3786
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

14-70237133-TTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237133
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237131
    reference: chr 14
allele count: 1
allele frequency: 8.410428931875526e-6
allele num: 118900
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.367-45_367-44delGT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*861_*862delGT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.752-45_752-44delGT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2004_2005delGT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.870-45_870-44delGT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1765_1766delGT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.298-45_298-44delGT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.367-45_367-44delGT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.367-45_367-44delGT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.358-45_358-44delGT
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7887
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: TTG
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

14-70237133-TTGTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237133
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237129
    reference: chr 14
allele count: 2
allele frequency: 1.682085786375105e-5
allele num: 118900
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.870-47_870-44delGTGT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*859_*862delGTGT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.752-47_752-44delGTGT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.367-47_367-44delGTGT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2002_2005delGTGT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.367-47_367-44delGTGT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.358-47_358-44delGTGT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.367-47_367-44delGTGT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.298-47_298-44delGTGT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1763_1766delGTGT
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7887
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16339
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: TTGTG
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

14-70237134-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237134
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237134
    reference: chr 14
allele count: 1
allele frequency: 8.405056481979558e-6
allele num: 118976
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.752-50T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.298-50T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.358-50T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.367-50T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.1999T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.870-50T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*856T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1760T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.367-50T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.367-50T>C
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9706
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14232
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17379
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

14-70237140-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237140
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237140
    reference: chr 14
allele count: 2
allele frequency: 1.679402132840709e-5
allele num: 119090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1766T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.367-44T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2005T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*862T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.367-44T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.752-44T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.870-44T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.358-44T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.298-44T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.367-44T>C
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6623
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14590
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2557
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21226
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

14-70237141-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237141
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237141
    reference: chr 14
allele count: 1
allele frequency: 8.40180806909647e-6
allele num: 119022
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.367-43C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*863C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.298-43C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.367-43C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.870-43C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.367-43C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.752-43C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.358-43C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2006C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1767C>G
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6059
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5760
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3915
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

14-70237144-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237144
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237144
    reference: chr 14
allele count: 1
allele frequency: 8.39545973537511e-6
allele num: 119112
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.870-40C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.298-40C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1770C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.367-40C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2009C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.367-40C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.752-40C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.367-40C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*866C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.358-40C>T
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3909
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-70237147-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237147
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237147
    reference: chr 14
allele count: 1
allele frequency: 8.379981899239097e-6
allele num: 119332
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1773T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.367-37T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.752-37T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.367-37T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*869T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.358-37T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.298-37T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.870-37T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.367-37T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2012T>C
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15513
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3922
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

14-70237149-CTCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237149
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237146
    reference: chr 14
allele count: 1
allele frequency: 8.37885846432282e-6
allele num: 119348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.367-30_367-28delCTT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.298-30_298-28delCTT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1780_1782delCTT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.752-30_752-28delCTT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*876_*878delCTT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2019_2021delCTT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.367-30_367-28delCTT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.870-30_870-28delCTT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.367-30_367-28delCTT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.358-30_358-28delCTT
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8403
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7478
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: CTCT
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

14-70237151-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237151
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237151
    reference: chr 14
allele count: 1
allele frequency: 8.37184381488179e-6
allele num: 119448
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.367-33C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.298-33C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.367-33C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.752-33C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.870-33C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.358-33C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2016C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.367-33C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*873C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1777C>T
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

14-70237152-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237152
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237152
    reference: chr 14
allele count: 3
allele frequency: 2.509116456458466e-5
allele num: 119564
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.358-32T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.367-32T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.870-32T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.367-32T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1778T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.752-32T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*874T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2017T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.367-32T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.298-32T>C
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22053
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16133
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

14-70237153-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237153
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237153
    reference: chr 14
allele count: 1
allele frequency: 8.36050497450046e-6
allele num: 119610
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*875T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.752-31T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.367-31T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.367-31T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.358-31T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.870-31T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.367-31T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.298-31T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2018T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1779T>C
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3013
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

14-70237155-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237155
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237155
    reference: chr 14
allele count: 2
allele frequency: 1.670536743455672e-5
allele num: 119722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.367-29T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.298-29T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2020T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*877T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.752-29T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.358-29T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.870-29T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1781T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.367-29T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.367-29T>A
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8509
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16361
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

14-70237173-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237173
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237171
    reference: chr 14
allele count: 1
allele frequency: 8.273625337150233e-6
allele num: 120866
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.367-10_367-9delTT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1800_1801delTT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.870-10_870-9delTT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.752-10_752-9delTT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.10_11delTT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.367-10_367-9delTT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*896_*897delTT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2039_2040delTT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.367-10_367-9delTT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.298-10_298-9delTT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.358-10_358-9delTT
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4012
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: CTT
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum

14-70237195-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237195
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237195
    reference: chr 14
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1821T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.369T>C
  hgvsp: ENST00000553635.1:c.369T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.31T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.378T>C
  hgvsp: ENST00000394366.2:c.378T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.378T>C
  hgvsp: ENST00000553521.1:c.378T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.378T>C
  hgvsp: ENST00000557154.1:c.378T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.309T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.881T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*917T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2060T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.763T>C
  variant of: http://identifiers.org/hgnc/10787
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp126Asp
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-70237198-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237198
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237198
    reference: chr 14
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.372C>T
  hgvsp: ENST00000553635.1:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1824C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.884C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.381C>T
  hgvsp: ENST00000557154.1:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.312C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*920C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.381C>T
  hgvsp: ENST00000553521.1:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2063C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.34C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.381C>T
  hgvsp: ENST00000394366.2:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.766C>T
  variant of: http://identifiers.org/hgnc/10787
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Phe127Phe
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-70237202-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237202
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237202
    reference: chr 14
allele count: 2
allele frequency: 1.64866870002473e-5
allele num: 121310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.316A>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.376A>C
  hgvsp: ENST00000553635.1:c.376A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.385A>C
  hgvsp: ENST00000557154.1:c.385A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2067A>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.385A>C
  hgvsp: ENST00000553521.1:c.385A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1828A>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*924A>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.770A>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.385A>C
  hgvsp: ENST00000394366.2:c.385A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.888A>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.38A>C
  variant of: http://identifiers.org/hgnc/10787
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8789
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg129Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

14-70237227-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237227
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237227
    reference: chr 14
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.341C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.401C>T
  hgvsp: ENSP00000451391.1:p.Ala134Val
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1853C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.410C>T
  hgvsp: ENSP00000452123.1:p.Ala137Val
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.410C>T
  hgvsp: ENSP00000451088.1:p.Ala137Val
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.410C>T
  hgvsp: ENSP00000377892.2:p.Ala137Val
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*949C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.913C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.795C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.63C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2092C>T
  variant of: http://identifiers.org/hgnc/10787
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala137Val
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

14-70237228-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237228
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237228
    reference: chr 14
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1854G>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.914G>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.342G>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.64G>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*950G>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.411G>A
  hgvsp: ENST00000557154.1:c.411G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.796G>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2093G>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.411G>A
  hgvsp: ENST00000394366.2:c.411G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.402G>A
  hgvsp: ENST00000553635.1:c.402G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.411G>A
  hgvsp: ENST00000553521.1:c.411G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10787
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala137Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/14-70237234-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237234
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237234
    reference: chr 14
allele count: 2
allele frequency: 1.64883180266781e-5
allele num: 121298
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.70A>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1860A>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.802A>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*956A>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2099A>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.408A>C
  hgvsp: ENST00000553635.1:c.408A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.417A>C
  hgvsp: ENST00000557154.1:c.417A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.417A>C
  hgvsp: ENST00000553521.1:c.417A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.348A>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.920A>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.417A>C
  hgvsp: ENST00000394366.2:c.417A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10787
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala139Ala
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-70237237-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237237
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237237
    reference: chr 14
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.73C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.411C>T
  hgvsp: ENST00000553635.1:c.411C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.420C>T
  hgvsp: ENST00000557154.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1863C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2102C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.420C>T
  hgvsp: ENST00000553521.1:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*959C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.420C>T
  hgvsp: ENST00000394366.2:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.805C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.351C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.923C>T
  variant of: http://identifiers.org/hgnc/10787
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His140His
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

14-70237246-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237246
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237246
    reference: chr 14
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*968A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.420A>G
  hgvsp: ENST00000553635.1:c.420A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1872A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.82A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.429A>G
  hgvsp: ENST00000394366.2:c.429A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.429A>G
  hgvsp: ENST00000553521.1:c.429A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.429A>G
  hgvsp: ENST00000557154.1:c.429A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2111A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.360A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.814A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.932A>G
  variant of: http://identifiers.org/hgnc/10787
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys143Lys
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP

14-70237261-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237261
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237261
    reference: chr 14
allele count: 2
allele frequency: 1.651609493451368e-5
allele num: 121094
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.440+4T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.825+4T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.93+4T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.943+4T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.440+4T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.431+4T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.371+4T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1883+4T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2122+4T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*979+4T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.440+4T>C
  variant of: http://identifiers.org/hgnc/10787
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.440+4T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

14-70237264-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237264
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237264
    reference: chr 14
allele count: 8
allele frequency: 6.610805361363148e-5
allele num: 121014
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*979+7A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1883+7A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.431+7A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.440+7A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2122+7A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.371+7A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.440+7A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.943+7A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.93+7A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.825+7A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.440+7A>G
  variant of: http://identifiers.org/hgnc/10787
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.440+7A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

14-70237265-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237265
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237265
    reference: chr 14
allele count: 2
allele frequency: 1.652755970580944e-5
allele num: 121010
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.93+8C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.825+8C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.440+8C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2122+8C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.431+8C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.371+8C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*979+8C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1883+8C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.943+8C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.440+8C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.440+8C>G
  variant of: http://identifiers.org/hgnc/10787
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.440+8C>G
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

14-70237272-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237272
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237270
    reference: chr 14
allele count: 12
allele frequency: 9.943323058566172e-5
allele num: 120684
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.440+18_440+19delTG
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.440+18_440+19delTG
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2122+18_2122+19delTG
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.431+18_431+19delTG
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.371+18_371+19delTG
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*979+18_*979+19delTG
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.825+18_825+19delTG
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.93+18_93+19delTG
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.943+18_943+19delTG
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1883+18_1883+19delTG
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.440+18_440+19delTG
  variant of: http://identifiers.org/hgnc/10787
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3496
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8732
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: CTG
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

14-70237276-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237276
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237276
    reference: chr 14
allele count: 1
allele frequency: 8.293386853323161e-6
allele num: 120578
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.943+19G>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.431+19G>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.440+19G>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.93+19G>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.825+19G>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.440+19G>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*979+19G>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2122+19G>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.440+19G>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.371+19G>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1883+19G>A
  variant of: http://identifiers.org/hgnc/10787
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

14-70237276-GAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237276
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237274
    reference: chr 14
allele count: 1
allele frequency: 8.293386853323161e-6
allele num: 120578
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1883+21_1883+22delAA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.440+21_440+22delAA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*979+21_*979+22delAA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.943+21_943+22delAA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.431+21_431+22delAA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2122+21_2122+22delAA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.93+21_93+22delAA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.440+21_440+22delAA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.371+21_371+22delAA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.825+21_825+22delAA
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.440+21_440+22delAA
  variant of: http://identifiers.org/hgnc/10787
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: GAA
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

14-70237282-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237282
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237282
    reference: chr 14
allele count: 1
allele frequency: 8.305509875251242e-6
allele num: 120402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.371+25C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.93+25C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*979+25C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2122+25C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.440+25C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.431+25C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.943+25C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.440+25C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.825+25C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.440+25C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1883+25C>T
  variant of: http://identifiers.org/hgnc/10787
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

14-70237287-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237287
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237287
    reference: chr 14
allele count: 1
allele frequency: 8.314487162431821e-6
allele num: 120272
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.943+30A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2122+30A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*979+30A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.440+30A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.371+30A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.93+30A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.440+30A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.440+30A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.825+30A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.431+30A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1883+30A>G
  variant of: http://identifiers.org/hgnc/10787
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

14-70237291-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237291
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237291
    reference: chr 14
allele count: 1
allele frequency: 8.322375538873816e-6
allele num: 120158
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.440+34T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.431+34T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.93+34T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.943+34T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1883+34T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.440+34T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.825+34T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.371+34T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.440+34T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*979+34T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2122+34T>C
  variant of: http://identifiers.org/hgnc/10787
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3893
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

14-70237293-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237293
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237293
    reference: chr 14
allele count: 3
allele frequency: 2.498917135907773e-5
allele num: 120052
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.371+36T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.825+36T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1883+36T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.431+36T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.93+36T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*979+36T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.440+36T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.943+36T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.440+36T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2122+36T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.440+36T>C
  variant of: http://identifiers.org/hgnc/10787
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15933
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3889
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

14-70237294-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237294
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237294
    reference: chr 14
allele count: 1
allele frequency: 8.334583520861462e-6
allele num: 119982
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.440+37C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.440+37C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.93+37C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.371+37C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2122+37C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1883+37C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.825+37C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.440+37C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.943+37C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.431+37C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*979+37C>G
  variant of: http://identifiers.org/hgnc/10787
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17933
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

14-70237295-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237295
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237295
    reference: chr 14
allele count: 4
allele frequency: 3.336892685531233e-5
allele num: 119872
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.371+38C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.943+38C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.440+38C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1883+38C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.93+38C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.431+38C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.440+38C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.825+38C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2122+38C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.440+38C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*979+38C>T
  variant of: http://identifiers.org/hgnc/10787
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8221
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

14-70237297-GAAAATTTTACTGTGAACTTAGTTTTGAGGACTT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237297
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237264
    reference: chr 14
allele count: 1
allele frequency: 8.344459279038718e-6
allele num: 119840
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  variant of: http://identifiers.org/hgnc/10787
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3712
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2667
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5742
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: GAAAATTTTACTGTGAACTTAGTTTTGAGGACTT
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

14-70237304-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237304
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237304
    reference: chr 14
allele count: 1
allele frequency: 8.370021929457456e-6
allele num: 119474
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1883+47T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.440+47T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.93+47T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.825+47T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2122+47T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*979+47T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.440+47T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.371+47T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.943+47T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.431+47T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.440+47T>C
  variant of: http://identifiers.org/hgnc/10787
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7663
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-70237308-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237308
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237308
    reference: chr 14
allele count: 2
allele frequency: 1.680644022789533e-5
allele num: 119002
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.440+51T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.440+51T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*979+51T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.943+51T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.825+51T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1883+51T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.440+51T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.431+51T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2122+51T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.93+51T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.371+51T>C
  variant of: http://identifiers.org/hgnc/10787
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17807
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14560
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7581
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4704
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

14-70237670-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237670
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237670
    reference: chr 14
allele count: 2
allele frequency: 1.691074508742855e-5
allele num: 118268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.441-42A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.944-42A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.826-42A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*980-42A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554929
  gene symbol: SRSF5
  hgvsc: ENST00000554929.1:n.73A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.441-42A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1884-42A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.94-42A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.372-42A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.432-42A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.441-42A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2123-42A>G
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5096
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12995
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

14-70237671-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237671
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237671
    reference: chr 14
allele count: 24
allele frequency: 2.03203847326176e-4
allele num: 118108
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.441-41C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.826-41C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.432-41C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554929
  gene symbol: SRSF5
  hgvsc: ENST00000554929.1:n.74C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1884-41C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.94-41C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2123-41C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.944-41C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.441-41C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.441-41C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*980-41C>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.372-41C>T
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4665
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8619
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13095
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16844
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 1
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

14-70237675-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237675
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237675
    reference: chr 14
allele count: 1
allele frequency: 8.439388313135065e-6
allele num: 118492
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.94-37A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554929
  gene symbol: SRSF5
  hgvsc: ENST00000554929.1:n.78A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.432-37A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1884-37A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.441-37A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2123-37A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.372-37A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.944-37A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*980-37A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.441-37A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.826-37A>T
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.441-37A>T
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13548
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

14-70237677-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237677
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237677
    reference: chr 14
allele count: 1
allele frequency: 8.442665856170744e-6
allele num: 118446
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.944-35G>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.441-35G>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.372-35G>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.826-35G>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.432-35G>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1884-35G>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.441-35G>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*980-35G>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554929
  gene symbol: SRSF5
  hgvsc: ENST00000554929.1:n.80G>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.441-35G>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.94-35G>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2123-35G>C
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13730
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

14-70237679-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237679
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237679
    reference: chr 14
allele count: 1
allele frequency: 8.43668269636379e-6
allele num: 118530
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.94-33A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.441-33A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.372-33A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1884-33A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2123-33A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*980-33A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.826-33A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554929
  gene symbol: SRSF5
  hgvsc: ENST00000554929.1:n.82A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.432-33A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.944-33A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.441-33A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.441-33A>G
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

14-70237679-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237679
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237678
    reference: chr 14
allele count: 1
allele frequency: 8.43668269636379e-6
allele num: 118530
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*980-32delT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.944-32delT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.441-32delT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.441-32delT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1884-32delT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554929
  gene symbol: SRSF5
  hgvsc: ENST00000554929.1:n.83delT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.826-32delT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.432-32delT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.372-32delT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2123-32delT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.441-32delT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.94-32delT
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: AT
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ

14-70237680-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237680
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237680
    reference: chr 14
allele count: 5
allele frequency: 4.212725802102993e-5
allele num: 118688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.94-32T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.944-32T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.432-32T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.372-32T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.441-32T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.826-32T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554929
  gene symbol: SRSF5
  hgvsc: ENST00000554929.1:n.83T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1884-32T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*980-32T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2123-32T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.441-32T>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.441-32T>A
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9201
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

14-70237681-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237681
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237681
    reference: chr 14
allele count: 4
allele frequency: 3.370691834499031e-5
allele num: 118670
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.944-31A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.94-31A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.372-31A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*980-31A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.441-31A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2123-31A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1884-31A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554929
  gene symbol: SRSF5
  hgvsc: ENST00000554929.1:n.84A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.826-31A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.432-31A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.441-31A>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.441-31A>G
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9221
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13983
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

14-70237692-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237692
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237692
    reference: chr 14
allele count: 1
allele frequency: 8.379701012267883e-6
allele num: 119336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2123-20G>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.441-20G>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.94-20G>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1884-20G>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.441-20G>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.432-20G>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.826-20G>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554929
  gene symbol: SRSF5
  hgvsc: ENST00000554929.1:n.95G>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.944-20G>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*980-20G>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.441-20G>A
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.372-20G>A
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

14-70237697-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237697
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237698
    reference: chr 14
allele count: 3
allele frequency: 2.559770644550248e-5
allele num: 117198
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.441-14dupG
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.441-14dupG
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.826-14dupG
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.944-14dupG
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2123-14dupG
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.441-14dupG
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.94-14dupG
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.432-14dupG
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554929
  gene symbol: SRSF5
  hgvsc: ENST00000554929.1:n.101dupG
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.372-14dupG
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1884-14dupG
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*980-14dupG
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14585
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

14-70237698-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237698
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237698
    reference: chr 14
allele count: 3
allele frequency: 2.541597478735301e-5
allele num: 118036
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.441-14G>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.441-14G>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.441-14G>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.944-14G>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2123-14G>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.826-14G>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554929
  gene symbol: SRSF5
  hgvsc: ENST00000554929.1:n.101G>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.432-14G>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.94-14G>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*980-14G>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.372-14G>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1884-14G>C
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ

14-70237698-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237698
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237697
    reference: chr 14
allele count: 3
allele frequency: 2.541597478735301e-5
allele num: 118036
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*980-10delT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.944-10delT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2123-10delT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1884-10delT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.94-10delT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.372-10delT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554929
  gene symbol: SRSF5
  hgvsc: ENST00000554929.1:n.105delT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.441-10delT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.432-10delT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.441-10delT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.826-10delT
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.441-10delT
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: GT
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

14-70237699-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237699
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237699
    reference: chr 14
allele count: 3644
allele frequency: 3.097269914663584e-2
allele num: 117652
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.441-13T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.432-13T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.944-13T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.372-13T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*980-13T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2123-13T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.94-13T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.826-13T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554929
  gene symbol: SRSF5
  hgvsc: ENST00000554929.1:n.102T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.441-13T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1884-13T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.441-13T>G
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 4.25e1
  variant carriers: 350
genotype depth: GenotypeDepth
  all individuals: 14743
  bin: 2.75e1
  variant carriers: 271
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9888
  bin: 3.25e1
  variant carriers: 319
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 9.75e1
  variant carriers: 652
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 22117
  bin: 2.25e1
  variant carriers: 201
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 4.75e1
  variant carriers: 303
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 5.75e1
  variant carriers: 229
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.25e1
  variant carriers: 267
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 3.75e1
  variant carriers: 285
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-70237700-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237700
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237700
    reference: chr 14
allele count: 1
allele frequency: 8.333472224537076e-6
allele num: 119998
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2123-12T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.441-12T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.826-12T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.441-12T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554929
  gene symbol: SRSF5
  hgvsc: ENST00000554929.1:n.103T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.441-12T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.944-12T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.94-12T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.372-12T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1884-12T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.432-12T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*980-12T>G
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ

14-70237701-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237701
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237701
    reference: chr 14
allele count: 1
allele frequency: 8.327226700419692e-6
allele num: 120088
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.432-11T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.441-11T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.441-11T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.94-11T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1884-11T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554929
  gene symbol: SRSF5
  hgvsc: ENST00000554929.1:n.104T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.944-11T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.441-11T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.372-11T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.826-11T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*980-11T>C
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2123-11T>C
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10440
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

14-70237701-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237701
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237701
    reference: chr 14
allele count: 8
allele frequency: 6.661781360335754e-5
allele num: 120088
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554929
  gene symbol: SRSF5
  hgvsc: ENST00000554929.1:n.104T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.944-11T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451391
  ensembl transcript: ENST00000553635
  gene symbol: SRSF5
  hgvsc: ENST00000553635.1:c.432-11T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2123-11T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556647
  gene symbol: SRSF5
  hgvsc: ENST00000556647.1:n.94-11T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000557460
  gene symbol: SRSF5
  hgvsc: ENST00000557460.1:n.826-11T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.372-11T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556184
  gene symbol: SRSF5
  hgvsc: ENST00000556184.1:n.1884-11T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.441-11T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000474409
  ensembl transcript: ENST00000555547
  gene symbol: SRSF5
  hgvsc: ENST00000555547.1:c.*980-11T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000451088
  ensembl transcript: ENST00000557154
  gene symbol: SRSF5
  hgvsc: ENST00000557154.1:c.441-11T>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.441-11T>G
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15479
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10440
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

14-70237703-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70237703
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 70237703
    reference: chr 14
allele count: 6
allele frequency: 5.00058340139683e-5
allele num: 119986
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000377892
  ensembl transcript: ENST00000394366
  gene symbol: SRSF5
  hgvsc: ENST00000394366.2:c.441-9C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554929
  gene symbol: SRSF5
  hgvsc: ENST00000554929.1:n.106C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000554465
  gene symbol: SRSF5
  hgvsc: ENST00000554465.1:n.2123-9C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556587
  gene symbol: SRSF5
  hgvsc: ENST00000556587.1:n.944-9C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl protein: ENSP00000452123
  ensembl transcript: ENST00000553521
  gene symbol: SRSF5
  hgvsc: ENST00000553521.1:c.441-9C>G
  variant of: http://identifiers.org/hgnc/10787
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100650
  ensembl transcript: ENST00000556330
  gene symbol: SRSF5
  hgvsc: ENST00000556330.1:n.372-9C>G
  variant of: http://identifiers.org/hgnc/10787
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.80to99.90
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 143
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4040
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 240
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1925
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 555
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5394
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48113
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 116
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1468
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.72762645914397e-5
allele num: 10280
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503533303262667e-5
allele num: 66510
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.701e0

DP
type: SiteQuality
SIO_000300: 1.524506e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.256e0

QD
type: SiteQuality
SIO_000300: 1.669e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.16e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

GenotypeDepth
all individuals: 165
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38259
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 288
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48113
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 116
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1468
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5394
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1925
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 555
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 256
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 9.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.077549532028686e-5
allele num: 16454
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.701e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: 7.54e-1

DP
type: SiteQuality
SIO_000300: 1.524506e6

MQ
type: SiteQuality
SIO_000300: 5.948e1

QD
type: SiteQuality
SIO_000300: 1.669e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.256e0

GenotypeDepth
all individuals: 142
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38197
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 590
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1467
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 315
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 721
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 94
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1923
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5395
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48034
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1403
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.847e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.523733e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.99e0

MQ
type: SiteQuality
SIO_000300: 6.023e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

GenotypeDepth
all individuals: 156
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 926
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 165
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 183
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47899
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5395
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1460
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1398
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1926
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 724
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.738994935722633e-5
allele num: 10268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66482
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.785697755149271e-4
allele num: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.48e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 7.33e-1

DP
type: SiteQuality
SIO_000300: 1.523062e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.07e-1

QD
type: SiteQuality
SIO_000300: 1.152e1

GenotypeDepth
all individuals: 64
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 476
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5154
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46591
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1349
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 246
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1920
bin: 9.75e1
variant carriers: 1

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.086427267194157e-5
allele num: 16430
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66304
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.98e-1

DP
type: SiteQuality
SIO_000300: 1.511349e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 1.413e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.455e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.68e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.018e1

GenotypeDepth
all individuals: 204
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3975
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 165
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46714
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1403
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5156
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1210
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1920
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1348
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 3.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508068164681044e-5
allele num: 66310
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -9.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.099e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.458e0

FS
type: SiteQuality
SIO_000300: 2.043e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-2

DP
type: SiteQuality
SIO_000300: 1.511103e6

QD
type: SiteQuality
SIO_000300: 8.51e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 244
bin: 5.25e1
variant carriers: 4

GenotypeDepth
all individuals: 42
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 141
bin: 6.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1712
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1395
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 709
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5095
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.533228565384267e-5
allele num: 66178
num of homozygotes: 0

African
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allele frequency: 2.168342203824167e-3
allele num: 10146
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

Latino
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allele frequency: 2.605976372480889e-4
allele num: 11512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.3e-2

BaseQRankSum
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InbreedingCoeff
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SIO_000300: -3.0e-4

ReadPosRankSum
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MQ
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QD
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FS
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VQSLOD
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DP
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SIO_000300: 1.499158e6

ClippingRankSum
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SIO_000300: -4.15e-1

GenotypeDepth
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variant carriers: 1

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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variant carriers: 0

African
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allele count: 1
allele frequency: 9.9147332936744e-5
allele num: 10086
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 16386
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European (Non-Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.69e-1

FS
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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MQRankSum
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SIO_000300: 1.4e-2

VQSLOD
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SIO_000300: 8.46e-1

DP
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SIO_000300: 1.476214e6

MQ
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SIO_000300: 6.0e1

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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

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

South Asian
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allele num: 16378
num of homozygotes: 0

Other
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: 1.7e-3

DP
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QD
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FS
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MQ
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SIO_000300: 5.861e1

BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: 7.95e-1

VQSLOD
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SIO_000300: -2.643e0

MQRankSum
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SIO_000300: 6.889999999999999e-1

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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variant carriers: 0

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

South Asian
type: Population
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allele frequency: 6.125199068969742e-5
allele num: 16326
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East Asian
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 5
allele frequency: 7.592553223798099e-5
allele num: 65854
num of homozygotes: 0

Other
type: Population
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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SIO_000300: 2.83e0

QD
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SIO_000300: 1.274e1

ClippingRankSum
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BaseQRankSum
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MQRankSum
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SIO_000300: 8.799999999999999e-2

FS
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SIO_000300: 7.62e-1

DP
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SIO_000300: 1.446893e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.14e-1

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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African
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allele frequency: 0.0e0
allele num: 9942
num of homozygotes: 0

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

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

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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allele frequency: 7.963734378828718e-4
allele num: 16324
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European (Non-Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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QD
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MQ
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MQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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DP
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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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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 65688
num of homozygotes: 0

East Asian
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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FS
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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MQRankSum
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QD
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VQSLOD
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ClippingRankSum
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DP
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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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African
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allele frequency: 2.019793981013936e-4
allele num: 9902
num of homozygotes: 0

European (Non-Finnish)
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East Asian
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Other
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South Asian
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Latino
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num of homozygotes: 0

European (Finnish)
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QD
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ReadPosRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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MQ
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VQSLOD
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DP
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MQRankSum
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BaseQRankSum
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GenotypeDepth
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variant carriers: 1

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

African
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num of homozygotes: 0

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

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

European (Finnish)
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allele frequency: NaN
allele num: 0
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South Asian
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allele num: 7508
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FS
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DP
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MQ
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele num: 16270
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European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQ
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MQRankSum
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FS
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 9.850275807722617e-5
allele num: 10152
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 6.146281499692685e-5
allele num: 16270
num of homozygotes: 0

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

Other
type: Population
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FS
type: SiteQuality
SIO_000300: 3.867e0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 11442
num of homozygotes: 0

Other
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South Asian
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allele num: 16270
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East Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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DP
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ReadPosRankSum
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QD
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MQ
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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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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GenotypeQuality
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European (Finnish)
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East Asian
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Latino
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European (Non-Finnish)
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South Asian
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Other
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African
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DP
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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FS
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ReadPosRankSum
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QD
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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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GenotypeQuality
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European (Finnish)
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East Asian
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Other
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South Asian
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Latino
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European (Non-Finnish)
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African
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DP
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FS
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ClippingRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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South Asian
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Latino
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Other
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BaseQRankSum
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DP
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FS
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InbreedingCoeff
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QD
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MQ
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VQSLOD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.528304193666707e-5
allele num: 65432
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DP
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQ
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FS
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.619e1

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

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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ReadPosRankSum
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BaseQRankSum
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DP
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QD
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FS
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.526764176005374e-5
allele num: 65498
num of homozygotes: 0

South Asian
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Other
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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ReadPosRankSum
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FS
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DP
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QD
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VQSLOD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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SIO_000300: -3.0e-4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

African
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allele frequency: 9.790483649892304e-5
allele num: 10214
num of homozygotes: 0

East Asian
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 1.516070345664039e-4
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.524994662518681e-5
allele num: 65574
num of homozygotes: 0

Other
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QD
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SIO_000300: 1.323e1

MQRankSum
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SIO_000300: 6.61e-1

ClippingRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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SIO_000300: 2.3e0

BaseQRankSum
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SIO_000300: 1.46e0

InbreedingCoeff
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SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e-1

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.524297298945186e-5
allele num: 65604
num of homozygotes: 0

African
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Other
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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MQRankSum
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SIO_000300: 1.74e0

FS
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DP
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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MQ
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QD
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InbreedingCoeff
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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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GenotypeQuality
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Latino
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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allele frequency: 3.046180090166931e-5
allele num: 65656
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African
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European (Finnish)
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Other
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QD
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DP
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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MQ
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

European (Finnish)
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Latino
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South Asian
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European (Non-Finnish)
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East Asian
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Other
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BaseQRankSum
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MQRankSum
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MQ
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ReadPosRankSum
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FS
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VQSLOD
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InbreedingCoeff
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QD
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
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European (Finnish)
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East Asian
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African
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South Asian
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VQSLOD
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DP
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FS
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MQRankSum
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MQ
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QD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 908
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South Asian
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allele count: 1
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MQRankSum
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SIO_000300: 4.09e-1

MQ
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ClippingRankSum
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SIO_000300: -1.47e-1

VQSLOD
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FS
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InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
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SIO_000300: -2.615e0

QD
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DP
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SIO_000300: 1.730814e6

ReadPosRankSum
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SIO_000300: -4.55e-1

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

Latino
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allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.999850007499625e-5
allele num: 66670
num of homozygotes: 0

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

ReadPosRankSum
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SIO_000300: 7.6e-2

MQ
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SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.94e-1

BaseQRankSum
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SIO_000300: 1.17e0

QD
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SIO_000300: 1.027e1

InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: 1.97e0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

DP
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SIO_000300: 1.731172e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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African
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BaseQRankSum
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MQ
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VQSLOD
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FS
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SIO_000300: 0.0e0

ClippingRankSum
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MQRankSum
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ReadPosRankSum
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SIO_000300: -2.51e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

DP
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SIO_000300: 1.732251e6

QD
type: SiteQuality
SIO_000300: 1.099e1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

Latino
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African
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allele num: 10388
num of homozygotes: 0

BaseQRankSum
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SIO_000300: 1.49e-1

QD
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ClippingRankSum
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SIO_000300: 1.72e-1

DP
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
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SIO_000300: 6.53e-1

VQSLOD
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SIO_000300: 1.12e0

ReadPosRankSum
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SIO_000300: 2.69e-1

MQ
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SIO_000300: 5.984e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.000120004800192e-5
allele num: 66664
num of homozygotes: 0

DP
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SIO_000300: 1.731593e6

VQSLOD
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BaseQRankSum
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InbreedingCoeff
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FS
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MQRankSum
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QD
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MQ
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ClippingRankSum
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ReadPosRankSum
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SIO_000300: 6.14e-1

GenotypeQuality
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variant carriers: 0

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

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

Latino
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num of homozygotes: 0

Other
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num of homozygotes: 0

East Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

European (Finnish)
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ClippingRankSum
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VQSLOD
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FS
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MQRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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ReadPosRankSum
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DP
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MQ
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SIO_000300: 5.954e1

GenotypeQuality
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variant carriers: 0

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

African
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num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
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Other
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
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ClippingRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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QD
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DP
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GenotypeDepth
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variant carriers: 1

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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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006433768264085e-5
allele num: 66524
num of homozygotes: 0

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

BaseQRankSum
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SIO_000300: -1.323e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.3e-1

VQSLOD
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SIO_000300: -6.014e-1

FS
type: SiteQuality
SIO_000300: 2.18e0

MQRankSum
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SIO_000300: -7.06e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.41e-1

DP
type: SiteQuality
SIO_000300: 1.726692e6

QD
type: SiteQuality
SIO_000300: 9.359999999999999e0

GenotypeDepth
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bin: 7.25e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 8

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66470
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

East Asian
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allele count: 8
allele frequency: 9.252833680314596e-4
allele num: 8646
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

BaseQRankSum
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SIO_000300: 3.05e0

ClippingRankSum
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SIO_000300: -1.83e-1

FS
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DP
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SIO_000300: 1.724296e6

ReadPosRankSum
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SIO_000300: 1.67e-1

QD
type: SiteQuality
SIO_000300: 1.303e1

MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
SIO_000300: -3.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.73370319001387e-4
allele num: 11536
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.724377e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
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SIO_000300: 1.26e0

VQSLOD
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SIO_000300: 5.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

QD
type: SiteQuality
SIO_000300: 1.289e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 115
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 12

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1420
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variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 5.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 10
allele frequency: 9.714396735962696e-4
allele num: 10294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.017774692941425e-5
allele num: 66274
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

FS
type: SiteQuality
SIO_000300: 1.514e0

DP
type: SiteQuality
SIO_000300: 1.712189e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-2

QD
type: SiteQuality
SIO_000300: 1.665e1

GenotypeQuality
all individuals: 89
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variant carriers: 0

GenotypeQuality
all individuals: 1101
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3947
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.079766536964981e-5
allele num: 16448
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.625e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.15e-1

DP
type: SiteQuality
SIO_000300: 1.705305e6

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509980974239725e-5
allele num: 66226
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.15e-1

VQSLOD
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InbreedingCoeff
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QD
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ClippingRankSum
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DP
type: SiteQuality
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BaseQRankSum
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MQ
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SIO_000300: 6.0e1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.512218727316719e-5
allele num: 66128
num of homozygotes: 0

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

South Asian
type: Population
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DP
type: SiteQuality
SIO_000300: 1.691171e6

InbreedingCoeff
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FS
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
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QD
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VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513775355737209e-5
allele num: 66060
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.17e-1

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.17e-1

DP
type: SiteQuality
SIO_000300: 1.670481e6

FS
type: SiteQuality
SIO_000300: 1.547e0

MQ
type: SiteQuality
SIO_000300: 4.469e1

VQSLOD
type: SiteQuality
SIO_000300: -1.173e0

MQRankSum
type: SiteQuality
SIO_000300: -8.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
all individuals: 7061
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1417
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 148
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2192
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515518913676043e-5
allele num: 65984
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.657152e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-1

FS
type: SiteQuality
SIO_000300: 2.4956e1

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.19e0

QD
type: SiteQuality
SIO_000300: 1.457e1

MQ
type: SiteQuality
SIO_000300: 4.894e1

VQSLOD
type: SiteQuality
SIO_000300: -4.392e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.496503496503497e-4
allele num: 8580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65936
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.53e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.24e-1

DP
type: SiteQuality
SIO_000300: 1.643515e6

QD
type: SiteQuality
SIO_000300: 1.5e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.009e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2345
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1415
bin: 9.25e1
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GenotypeQuality
all individuals: 5747
bin: 9.75e1
variant carriers: 1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517773123273533e-5
allele num: 65886
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

DP
type: SiteQuality
SIO_000300: 1.643978e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.401e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.639999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.377e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

GenotypeQuality
all individuals: 1240
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2491
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variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.077549532028686e-5
allele num: 65816
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.76e-1

FS
type: SiteQuality
SIO_000300: 2.219e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.91e0

QD
type: SiteQuality
SIO_000300: 1.443e1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

MQ
type: SiteQuality
SIO_000300: 5.919e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.44e-1

DP
type: SiteQuality
SIO_000300: 1.640123e6

GenotypeQuality
all individuals: 1306
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 22814
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65788
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.920634920634921e-5
allele num: 10080
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.631995e6

MQRankSum
type: SiteQuality
SIO_000300: -3.368e0

QD
type: SiteQuality
SIO_000300: 1.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 5.858e0

VQSLOD
type: SiteQuality
SIO_000300: -8.120000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.177e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524808636516117e-5
allele num: 65582
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9994
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
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SIO_000300: 3.38e0

DP
type: SiteQuality
SIO_000300: 1.615272e6

VQSLOD
type: SiteQuality
SIO_000300: 4.65e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-2

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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SIO_000300: -1.171e0

GenotypeQuality
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variant carriers: 2

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9916
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.361832782239018e-4
allele num: 8468
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65322
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.32e0

ClippingRankSum
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SIO_000300: 1.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.601e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

DP
type: SiteQuality
SIO_000300: 1.617353e6

QD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3349
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GenotypeQuality
all individuals: 2495
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1850
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.056141315974451e-5
allele num: 65442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15060
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.889083e6

MQRankSum
type: SiteQuality
SIO_000300: 6.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.1e-2

MQ
type: SiteQuality
SIO_000300: 5.827e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-1

QD
type: SiteQuality
SIO_000300: 1.653e1

GenotypeDepth
all individuals: 1492
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3813
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1900
bin: 4.75e1
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GenotypeQuality
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variant carriers: 21

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1847
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 877
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

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

South Asian
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allele count: 24
allele frequency: 1.601708489054992e-3
allele num: 14984
num of homozygotes: 1

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

QD
type: SiteQuality
SIO_000300: 1.433e1

FS
type: SiteQuality
SIO_000300: 6.087e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

DP
type: SiteQuality
SIO_000300: 1.895044e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.58e0

VQSLOD
type: SiteQuality
SIO_000300: 7.25e-1

GenotypeDepth
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2582
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65544
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.709284096847239e-5
allele num: 11482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15144
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

QD
type: SiteQuality
SIO_000300: 1.51e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.152e-1

DP
type: SiteQuality
SIO_000300: 1.916391e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.297e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

GenotypeDepth
all individuals: 84
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variant carriers: 0

GenotypeQuality
all individuals: 1574
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 906
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variant carriers: 0

GenotypeQuality
all individuals: 78
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variant carriers: 0

GenotypeQuality
all individuals: 44
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variant carriers: 0

GenotypeQuality
all individuals: 19376
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3455
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 518
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variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.17426021606388e-4
allele num: 8516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65522
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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SIO_000300: -1.02e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
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SIO_000300: 1.16e0

ReadPosRankSum
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SIO_000300: 1.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.294e0

DP
type: SiteQuality
SIO_000300: 1.924602e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

QD
type: SiteQuality
SIO_000300: 1.916e1

GenotypeDepth
all individuals: 694
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1912
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variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2598
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1499
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5028
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.605892456070815e-5
allele num: 15138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65582
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.21e-1

QD
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SIO_000300: 1.72e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.13e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e0

DP
type: SiteQuality
SIO_000300: 1.933266e6

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65582
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.17426021606388e-4
allele num: 8516
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15138
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.34e-1

InbreedingCoeff
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SIO_000300: 1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 1.72e1

DP
type: SiteQuality
SIO_000300: 1.933266e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.616378259809895e-5
allele num: 65648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15194
num of homozygotes: 0

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

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

European (Finnish)
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

InbreedingCoeff
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQRankSum
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SIO_000300: 6.850000000000001e-1

DP
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4

GenotypeQuality
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GenotypeQuality
all individuals: 20395
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.690431519699812e-4
allele num: 8528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65658
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.434e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
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SIO_000300: 8.717000000000001e0

MQRankSum
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SIO_000300: 2.37e-1

MQ
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SIO_000300: 5.938e1

VQSLOD
type: SiteQuality
SIO_000300: -2.189e-1

DP
type: SiteQuality
SIO_000300: 1.939963e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.71e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.516254245511887e-5
allele num: 65952
num of homozygotes: 0

East Asian
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

BaseQRankSum
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SIO_000300: -6.008e0

MQRankSum
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FS
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SIO_000300: 1.7229e1

VQSLOD
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ClippingRankSum
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SIO_000300: 1.11e-1

QD
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InbreedingCoeff
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SIO_000300: 7.6e-3

MQ
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SIO_000300: 6.072e1

DP
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SIO_000300: 1.981554e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.31e-1

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 15598
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 1.551831160769708e-4
allele num: 6444
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.111097284012071e-5
allele num: 64286
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.016968e6

VQSLOD
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QD
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 2.14834e2

MQ
type: SiteQuality
SIO_000300: 5.865e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.99e0

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.66e-1

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7992
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variant carriers: 3

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 1.919631430765293e-4
allele num: 15628
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64840
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10040
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MQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

ClippingRankSum
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FS
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DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.85e-1

VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e-1

QD
type: SiteQuality
SIO_000300: 1.296e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.626773596545343e-5
allele num: 64840
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10040
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

South Asian
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allele count: 0
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num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.417e0

InbreedingCoeff
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SIO_000300: 8.9e-3

VQSLOD
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MQRankSum
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ReadPosRankSum
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DP
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QD
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 2.92e-1

ClippingRankSum
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SIO_000300: -7.63e-1

GenotypeDepth
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variant carriers: 88

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 35

East Asian
type: Population
allele count: 91
allele frequency: 1.060111835973905e-2
allele num: 8584
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 661
allele frequency: 1.019746991669238e-1
allele num: 6482
num of homozygotes: 0

African
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allele count: 580
allele frequency: 5.8562197092084e-2
allele num: 9904
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South Asian
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allele frequency: 5.74345883854499e-4
allele num: 15670
num of homozygotes: 0

Latino
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allele count: 85
allele frequency: 7.400313425039178e-3
allele num: 11486
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2165
allele frequency: 3.349215680207914e-2
allele num: 64642
num of homozygotes: 0

Other
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allele frequency: 5.995475113122172e-2
allele num: 884
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ClippingRankSum
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DP
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VQSLOD
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BaseQRankSum
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FS
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MQRankSum
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MQ
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.33e-2

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

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

Other
type: Population
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European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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allele count: 1
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allele num: 66230
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DP
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VQSLOD
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MQRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5297
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508932882665379e-5
allele num: 66272
num of homozygotes: 0

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

European (Finnish)
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Other
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Latino
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South Asian
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DP
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ReadPosRankSum
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ClippingRankSum
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QD
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MQ
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

MQRankSum
type: SiteQuality
SIO_000300: -2.82e-1

FS
type: SiteQuality
SIO_000300: 2.034e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

GenotypeDepth
all individuals: 24
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5297
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8015
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7488
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 3794
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2069
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24463
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 243
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2712
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4295
bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15756
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.635767970707265e-5
allele num: 10378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.056253017865765e-4
allele num: 66272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.2e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

QD
type: SiteQuality
SIO_000300: 1.18e1

DP
type: SiteQuality
SIO_000300: 1.732389e6

MQRankSum
type: SiteQuality
SIO_000300: -2.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

FS
type: SiteQuality
SIO_000300: 2.034e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0