17-73699343-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699343
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699343
    reference: chr 17
allele count: 1
allele frequency: 8.357290900581667e-6
allele num: 119656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.538-48G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*265-48G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000579864
  gene symbol: SAP30BP
  hgvsc: ENST00000579864.1:n.812G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.156-48G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.156-48G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-545G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2095-48G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+692G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.489-48G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.93-48G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+692G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.488-48G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.441-48G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.441-48G>A
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16865
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

17-73699344-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699344
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699344
    reference: chr 17
allele count: 1
allele frequency: 8.360924383799873e-6
allele num: 119604
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+693C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.488-47C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.441-47C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.93-47C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.538-47C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.156-47C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.156-47C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+693C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-544C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.441-47C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.489-47C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000579864
  gene symbol: SAP30BP
  hgvsc: ENST00000579864.1:n.813C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2095-47C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*265-47C>T
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17180
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

17-73699347-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699347
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699347
    reference: chr 17
allele count: 2
allele frequency: 1.671486118307788e-5
allele num: 119654
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.93-44G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000579864
  gene symbol: SAP30BP
  hgvsc: ENST00000579864.1:n.816G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.488-44G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-541G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.489-44G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+696G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+696G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.441-44G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2095-44G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*265-44G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.156-44G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.156-44G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.538-44G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.2G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.441-44G>C
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7151
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP

17-73699350-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699350
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699350
    reference: chr 17
allele count: 2
allele frequency: 1.672968180145214e-5
allele num: 119548
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.538-41C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+699C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000579864
  gene symbol: SAP30BP
  hgvsc: ENST00000579864.1:n.819C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-538C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*265-41C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.441-41C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.5C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.93-41C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+699C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.489-41C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.488-41C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2095-41C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.441-41C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.156-41C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.156-41C>T
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

17-73699351-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699351
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699351
    reference: chr 17
allele count: 9
allele frequency: 7.529112568598581e-5
allele num: 119536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000579864
  gene symbol: SAP30BP
  hgvsc: ENST00000579864.1:n.820G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.156-40G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+700G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+700G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.538-40G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.93-40G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.441-40G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2095-40G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.489-40G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.6G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.488-40G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-537G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.441-40G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*265-40G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.156-40G>A
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7191
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

17-73699372-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699372
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699372
    reference: chr 17
allele count: 5
allele frequency: 4.175923296640887e-5
allele num: 119734
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.489-19G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.441-19G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-516G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.156-19G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.93-19G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+721G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2095-19G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000579864
  gene symbol: SAP30BP
  hgvsc: ENST00000579864.1:n.841G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.27G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+721G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.488-19G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.538-19G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.441-19G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.156-19G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*265-19G>A
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

17-73699373-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699373
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699373
    reference: chr 17
allele count: 1
allele frequency: 8.34752412434472e-6
allele num: 119796
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2095-18C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.156-18C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000579864
  gene symbol: SAP30BP
  hgvsc: ENST00000579864.1:n.842C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+722C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+722C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.441-18C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.156-18C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.538-18C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.441-18C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.489-18C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.488-18C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.28C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*265-18C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-515C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.93-18C>T
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP

17-73699374-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699374
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699374
    reference: chr 17
allele count: 1
allele frequency: 8.350730688935283e-6
allele num: 119750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.93-17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*265-17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2095-17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.538-17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+723C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.441-17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.29C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000579864
  gene symbol: SAP30BP
  hgvsc: ENST00000579864.1:n.843C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+723C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.489-17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-514C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.488-17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.156-17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.156-17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.441-17C>T
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25253
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

17-73699375-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699375
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699375
    reference: chr 17
allele count: 4
allele frequency: 3.340180703776074e-5
allele num: 119754
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.488-16G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000579864
  gene symbol: SAP30BP
  hgvsc: ENST00000579864.1:n.844G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.538-16G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.441-16G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+724G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.156-16G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+724G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.489-16G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-513G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2095-16G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.93-16G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.156-16G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.30G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*265-16G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.441-16G>A
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

17-73699376-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699376
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699376
    reference: chr 17
allele count: 2
allele frequency: 1.669644198821231e-5
allele num: 119786
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.93-15G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.156-15G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.538-15G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.31G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.441-15G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+725G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.156-15G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.489-15G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2095-15G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000579864
  gene symbol: SAP30BP
  hgvsc: ENST00000579864.1:n.845G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.441-15G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+725G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.488-15G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*265-15G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-512G>A
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25429
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

17-73699376-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699376
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699376
    reference: chr 17
allele count: 1
allele frequency: 8.348220994106157e-6
allele num: 119786
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.489-15G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.441-15G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.538-15G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.31G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.441-15G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+725G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000579864
  gene symbol: SAP30BP
  hgvsc: ENST00000579864.1:n.845G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+725G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.93-15G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.488-15G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2095-15G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-512G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.156-15G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.156-15G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*265-15G>C
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

17-73699384-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699384
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699385
    reference: chr 17
allele count: 1
allele frequency: 8.341675008341675e-6
allele num: 119880
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.42dupT
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.441-4dupT
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.156-4dupT
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-501dupT
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.93-4dupT
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.488-4dupT
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000579864
  gene symbol: SAP30BP
  hgvsc: ENST00000579864.1:n.856dupT
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.489-4dupT
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2095-4dupT
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.538-4dupT
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*265-4dupT
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+736dupT
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.156-4dupT
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.441-4dupT
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+736dupT
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.489-4dupT
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ

17-73699387-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699387
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699387
    reference: chr 17
allele count: 1
allele frequency: 8.338753523123364e-6
allele num: 119922
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.156-4T>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.93-4T>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.489-4T>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.538-4T>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.441-4T>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*265-4T>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.156-4T>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+736T>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-501T>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.441-4T>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000579864
  gene symbol: SAP30BP
  hgvsc: ENST00000579864.1:n.856T>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.488-4T>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+736T>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.42T>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2095-4T>A
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.489-4T>A
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

17-73699389-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699389
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699389
    reference: chr 17
allele count: 1
allele frequency: 8.3380582329987e-6
allele num: 119932
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.489-2A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.441-2A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000579864
  gene symbol: SAP30BP
  hgvsc: ENST00000579864.1:n.858A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.44A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.93-2A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*265-2A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+738A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-499A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.488-2A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.441-2A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.156-2A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2095-2A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.156-2A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+738A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.538-2A>G
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.489-2A>G
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/17-73699397-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699397
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699397
    reference: chr 17
allele count: 1
allele frequency: 8.335556148306214e-6
allele num: 119968
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.447C>A
  hgvsp: ENSP00000293208.9:p.Tyr149Ter
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*271C>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.494C>A
  hgvsp: ENSP00000463545.1:p.Tyr165Ter
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+746C>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.447C>A
  hgvsp: ENSP00000347592.3:p.Tyr149Ter
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.99C>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.162C>A
  hgvsp: ENSP00000462133.1:p.Tyr54Ter
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-491C>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.544C>A
  hgvsp: ENSP00000463758.1:p.Tyr182Ter
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.162C>A
  hgvsp: ENSP00000463615.1:p.Tyr54Ter
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000579864
  gene symbol: SAP30BP
  hgvsc: ENST00000579864.1:n.866C>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.52C>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.495C>A
  hgvsp: ENSP00000462116.1:p.Tyr165Ter
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+746C>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2101C>A
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr165Ter
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

17-73699397-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699397
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699397
    reference: chr 17
allele count: 5
allele frequency: 4.167778074153108e-5
allele num: 119968
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.447C>T
  hgvsp: ENST00000293208.9:c.447C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.494C>T
  hgvsp: ENST00000580322.1:c.494C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.495C>T
  hgvsp: ENST00000584667.1:c.495C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2101C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.162C>T
  hgvsp: ENST00000583063.1:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.52C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.99C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*271C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.544C>T
  hgvsp: ENST00000583536.1:c.544C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000579864
  gene symbol: SAP30BP
  hgvsc: ENST00000579864.1:n.866C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-491C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.447C>T
  hgvsp: ENST00000355423.3:c.447C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+746C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.162C>T
  hgvsp: ENST00000584240.1:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+746C>T
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7442
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Tyr165Tyr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

17-73699398-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699398
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699398
    reference: chr 17
allele count: 1
allele frequency: 8.334861391255063e-6
allele num: 119978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.545G>T
  hgvsp: ENSP00000463758.1:p.Glu183Ter
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.163G>T
  hgvsp: ENSP00000462133.1:p.Glu55Ter
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.495G>T
  hgvsp: ENSP00000463545.1:p.Glu166Ter
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.53G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-490G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.163G>T
  hgvsp: ENSP00000463615.1:p.Glu55Ter
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.496G>T
  hgvsp: ENSP00000462116.1:p.Glu166Ter
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.448G>T
  hgvsp: ENSP00000293208.9:p.Glu150Ter
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.100G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.448G>T
  hgvsp: ENSP00000347592.3:p.Glu150Ter
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+747G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000579864
  gene symbol: SAP30BP
  hgvsc: ENST00000579864.1:n.867G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2102G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*272G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+747G>T
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21638
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu166Ter
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

17-73699415-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699415
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699415
    reference: chr 17
allele count: 1
allele frequency: 8.344459279038718e-6
allele num: 119840
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*289C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.180C>G
  hgvsp: ENSP00000463615.1:p.Phe60Leu
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.70C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.512C>G
  hgvsp: ENSP00000463545.1:p.Phe171Leu
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.465C>G
  hgvsp: ENSP00000347592.3:p.Phe155Leu
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+764C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.465C>G
  hgvsp: ENSP00000293208.9:p.Phe155Leu
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.513C>G
  hgvsp: ENSP00000462116.1:p.Phe171Leu
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+764C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2119C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.180C>G
  hgvsp: ENSP00000462133.1:p.Phe60Leu
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-473C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.117C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.562C>G
  hgvsp: ENSP00000463758.1:p.Phe188Leu
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Phe171Leu
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

17-73699418-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699418
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699417
    reference: chr 17
allele count: 1
allele frequency: 8.352125615969264e-6
allele num: 119730
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.516delG
  hgvsp: ENSP00000463545.1:p.Ala173ProfsTer28
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-469delG
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.469delG
  hgvsp: ENSP00000293208.9:p.Ala157ProfsTer28
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+768delG
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.184delG
  hgvsp: ENSP00000463615.1:p.Ala62ProfsTer28
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.184delG
  hgvsp: ENSP00000462133.1:p.Ala62ProfsTer28
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.469delG
  hgvsp: ENSP00000347592.3:p.Ala157ProfsTer28
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.517delG
  hgvsp: ENSP00000462116.1:p.Ala173ProfsTer28
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.121delG
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.566delG
  hgvsp: ENSP00000463758.1:p.Ala190ProfsTer28
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+768delG
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*293delG
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2123delG
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.74delG
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala173ProfsTer28
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: TG
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-73699422-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699422
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699422
    reference: chr 17
allele count: 1
allele frequency: 8.360644772924887e-6
allele num: 119608
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.77A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.187A>G
  hgvsp: ENSP00000463615.1:p.Ile63Val
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.519A>G
  hgvsp: ENSP00000463545.1:p.Ile174Val
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.520A>G
  hgvsp: ENSP00000462116.1:p.Ile174Val
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*296A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-466A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.472A>G
  hgvsp: ENSP00000347592.3:p.Ile158Val
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.472A>G
  hgvsp: ENSP00000293208.9:p.Ile158Val
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.124A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+771A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2126A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.569A>G
  hgvsp: ENSP00000463758.1:p.Ile191Val
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+771A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.187A>G
  hgvsp: ENSP00000462133.1:p.Ile63Val
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile174Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

17-73699435-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699435
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699435
    reference: chr 17
allele count: 1
allele frequency: 8.401243384020834e-6
allele num: 119030
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+784G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+784G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.485G>A
  hgvsp: ENSP00000347592.3:p.Gly162Asp
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.200G>A
  hgvsp: ENSP00000462133.1:p.Gly67Asp
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.582G>A
  hgvsp: ENSP00000463758.1:p.Gly195Asp
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.200G>A
  hgvsp: ENSP00000463615.1:p.Gly67Asp
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.137G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-453G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.532G>A
  hgvsp: ENSP00000463545.1:p.Gly178Asp
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.533G>A
  hgvsp: ENSP00000462116.1:p.Gly178Asp
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.485G>A
  hgvsp: ENSP00000293208.9:p.Gly162Asp
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.90G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*309G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2139G>A
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly178Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-73699438-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699438
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699438
    reference: chr 17
allele count: 1
allele frequency: 8.427581789681268e-6
allele num: 118658
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-450C>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.585C>A
  hgvsp: ENSP00000463758.1:p.Thr196Asn
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.93C>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.536C>A
  hgvsp: ENSP00000462116.1:p.Thr179Asn
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2142C>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.203C>A
  hgvsp: ENSP00000463615.1:p.Thr68Asn
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.488C>A
  hgvsp: ENSP00000347592.3:p.Thr163Asn
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.203C>A
  hgvsp: ENSP00000462133.1:p.Thr68Asn
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.535C>A
  hgvsp: ENSP00000463545.1:p.Thr179Asn
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.140C>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.488C>A
  hgvsp: ENSP00000293208.9:p.Thr163Asn
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+787C>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+787C>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*312C>A
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr179Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

17-73699454-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699454
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699454
    reference: chr 17
allele count: 1
allele frequency: 8.584575235217362e-6
allele num: 116488
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*325+3G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.216+3G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.216+3G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.598+3G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-434G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+803G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2155+3G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.549+3G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+803G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.501+3G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.501+3G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.153+3G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.548+3G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.109G>A
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.549+3G>A
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-73699455-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699455
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699455
    reference: chr 17
allele count: 2
allele frequency: 1.721259273284335e-5
allele num: 116194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+804C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.549+4C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.110C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.216+4C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-433C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.153+4C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.501+4C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.216+4C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.598+4C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*325+4C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2155+4C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.501+4C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+804C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.548+4C>T
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.549+4C>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ

17-73699456-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699456
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699456
    reference: chr 17
allele count: 1
allele frequency: 8.618163641691228e-6
allele num: 116034
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+805G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.111G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.598+5G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*325+5G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.549+5G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-432G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.548+5G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.216+5G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.153+5G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.216+5G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+805G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2155+5G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.501+5G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.501+5G>A
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.549+5G>A
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS

17-73699456-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699456
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699456
    reference: chr 17
allele count: 1
allele frequency: 8.618163641691228e-6
allele num: 116034
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+805G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2155+5G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.598+5G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.549+5G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.216+5G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.548+5G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*325+5G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.501+5G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.153+5G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.111G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+805G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-432G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.216+5G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.501+5G>T
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.549+5G>T
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

17-73699461-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699461
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699461
    reference: chr 17
allele count: 1
allele frequency: 8.720220447172904e-6
allele num: 114676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*325+10G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.501+10G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.549+10G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.548+10G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.116G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.216+10G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.598+10G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.501+10G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-427G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.153+10G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.216+10G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2155+10G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+810G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+810G>T
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9467
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

17-73699461-GCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699461
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699459
    reference: chr 17
allele count: 1
allele frequency: 8.720220447172904e-6
allele num: 114676
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.549+14_549+15delAC
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.598+14_598+15delAC
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.501+14_501+15delAC
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.501+14_501+15delAC
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.216+14_216+15delAC
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.548+14_548+15delAC
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.120_121delAC
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.216+14_216+15delAC
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2155+14_2155+15delAC
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+814_491+815delAC
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-423_489-422delAC
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.153+14_153+15delAC
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*325+14_*325+15delAC
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+814_488+815delAC
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13206
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: GCA
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

17-73699463-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699463
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699463
    reference: chr 17
allele count: 1
allele frequency: 8.7363712608331e-6
allele num: 114464
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+812A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.118A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.216+12A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+812A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*325+12A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.549+12A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.548+12A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.501+12A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.598+12A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.153+12A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-425A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.501+12A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2155+12A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.216+12A>G
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20555
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10205
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

17-73699464-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699464
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699464
    reference: chr 17
allele count: 1
allele frequency: 8.755647392568207e-6
allele num: 114212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*325+13C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.501+13C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2155+13C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+813C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.119C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+813C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.216+13C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.216+13C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.598+13C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.549+13C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-424C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.548+13C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.153+13C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.501+13C>T
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-73699466-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699466
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699466
    reference: chr 17
allele count: 2
allele frequency: 1.75753102042251e-5
allele num: 113796
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.216+15C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.501+15C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*325+15C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.153+15C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.598+15C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2155+15C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.121C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.216+15C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+815C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.548+15C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+815C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.501+15C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.549+15C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-422C>T
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11837
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11860
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

17-73699467-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699467
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699467
    reference: chr 17
allele count: 2
allele frequency: 1.765193906550635e-5
allele num: 113302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+816G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.216+16G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+816G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.548+16G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2155+16G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.122G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.153+16G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-421G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.501+16G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.549+16G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*325+16G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.598+16G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.216+16G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.501+16G>A
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

17-73699467-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699467
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699467
    reference: chr 17
allele count: 1
allele frequency: 8.825969532753173e-6
allele num: 113302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+816G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.216+16G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.549+16G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.216+16G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.153+16G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-421G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.501+16G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2155+16G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+816G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.598+16G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*325+16G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.548+16G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.122G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.501+16G>T
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11201
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

17-73699470-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699470
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699470
    reference: chr 17
allele count: 1
allele frequency: 8.853631759747848e-6
allele num: 112948
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.501+19G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.125G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.548+19G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*325+19G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.598+19G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+819G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+819G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.216+19G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.216+19G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.153+19G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.549+19G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-418G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.501+19G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2155+19G>T
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6197
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-73699474-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699474
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699474
    reference: chr 17
allele count: 1
allele frequency: 8.90614702267505e-6
allele num: 112282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-414G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+823G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.216+23G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.153+23G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.129G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.501+23G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+823G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.548+23G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.549+23G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*325+23G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2155+23G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.501+23G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.216+23G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.598+23G>A
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-73699474-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699474
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699474
    reference: chr 17
allele count: 1
allele frequency: 8.90614702267505e-6
allele num: 112282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.153+23G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.548+23G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.501+23G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.501+23G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+823G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+823G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*325+23G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.216+23G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.129G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2155+23G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.549+23G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.216+23G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.598+23G>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-414G>C
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7403
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14385
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

17-73699477-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699477
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699477
    reference: chr 17
allele count: 2
allele frequency: 1.788620794505357e-5
allele num: 111818
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*325+26G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-411G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+826G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.216+26G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.216+26G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.501+26G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.598+26G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.153+26G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2155+26G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.132G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.549+26G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+826G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.548+26G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.501+26G>A
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4341
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8230
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ

17-73699488-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699488
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699488
    reference: chr 17
allele count: 1
allele frequency: 9.189656123067874e-6
allele num: 108818
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.598+37C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2155+37C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.153+37C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.216+37C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+837C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.216+37C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.143C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.549+37C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.548+37C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*325+37C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.501+37C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.501+37C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+837C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-400C>T
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 18980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14843
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP

17-73699496-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699496
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699496
    reference: chr 17
allele count: 1
allele frequency: 9.440552838774238e-6
allele num: 105926
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.153+45G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.548+45G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.501+45G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.488+845G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.491+845G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.216+45G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-392G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.549+45G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.151G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.216+45G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2155+45G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*325+45G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.501+45G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.598+45G>A
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-73699839-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699839
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699839
    reference: chr 17
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.492-997G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*326-49G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.549-49G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.489-997G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2156-49G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.441-49G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.502-49G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.154-49G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-49G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.217-49G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.550-49G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.599-49G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.502-49G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.217-49G>A
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21134
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

17-73699840-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699840
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699840
    reference: chr 17
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.489-996G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.550-48G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.492-996G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.502-48G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.154-48G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-48G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.441-48G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.217-48G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.549-48G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.502-48G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.599-48G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.217-48G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*326-48G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2156-48G>A
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP

17-73699849-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699849
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699849
    reference: chr 17
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*326-39G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.549-39G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2156-39G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.489-987G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.217-39G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.492-987G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.154-39G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.217-39G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-39G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.599-39G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.550-39G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.502-39G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.441-39G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.502-39G>A
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

17-73699859-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699859
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699859
    reference: chr 17
allele count: 3
allele frequency: 2.471413978317461e-5
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2156-29A>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.441-29A>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.492-977A>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.599-29A>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.502-29A>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*326-29A>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.502-29A>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.154-29A>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.549-29A>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-29A>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.550-29A>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.217-29A>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000578756
  gene symbol: SAP30BP
  hgvsc: ENST00000578756.1:n.10A>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.217-29A>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.489-977A>T
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21134
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS

17-73699861-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699861
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699861
    reference: chr 17
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.502-27C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.489-975C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-27C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000578756
  gene symbol: SAP30BP
  hgvsc: ENST00000578756.1:n.12C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.217-27C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.217-27C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.492-975C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.549-27C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.154-27C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.550-27C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2156-27C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.502-27C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*326-27C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.441-27C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.599-27C>T
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

17-73699863-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699863
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699863
    reference: chr 17
allele count: 22
allele frequency: 1.812280672850388e-4
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2156-25G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.489-973G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.154-25G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*326-25G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.550-25G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.502-25G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.502-25G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.217-25G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-25G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.217-25G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.599-25G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000578756
  gene symbol: SAP30BP
  hgvsc: ENST00000578756.1:n.14G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.549-25G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.492-973G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.441-25G>A
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21146
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

17-73699865-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699865
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699865
    reference: chr 17
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000578756
  gene symbol: SAP30BP
  hgvsc: ENST00000578756.1:n.16G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-23G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.217-23G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*326-23G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.599-23G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.492-971G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.154-23G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.502-23G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.217-23G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.489-971G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.441-23G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.550-23G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.549-23G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2156-23G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.502-23G>A
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21143
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

17-73699868-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699868
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699868
    reference: chr 17
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.154-20A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.489-968A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.217-20A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.599-20A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.502-20A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.492-968A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000578756
  gene symbol: SAP30BP
  hgvsc: ENST00000578756.1:n.19A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-20A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*326-20A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.502-20A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.550-20A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.217-20A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.441-20A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2156-20A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.549-20A>G
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

17-73699871-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699871
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699871
    reference: chr 17
allele count: 3
allele frequency: 2.471169686985173e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.550-17C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.154-17C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.441-17C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.489-965C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*326-17C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2156-17C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.217-17C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.217-17C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000578756
  gene symbol: SAP30BP
  hgvsc: ENST00000578756.1:n.22C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.502-17C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-17C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.599-17C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.549-17C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.502-17C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.492-965C>G
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

17-73699871-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699871
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699871
    reference: chr 17
allele count: 56
allele frequency: 4.612850082372323e-4
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000578756
  gene symbol: SAP30BP
  hgvsc: ENST00000578756.1:n.22C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.154-17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.441-17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.502-17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*326-17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.550-17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.489-965C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.492-965C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.549-17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.502-17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.599-17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.217-17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.217-17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2156-17C>T
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 2
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

17-73699872-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699872
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699872
    reference: chr 17
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.502-16G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.502-16G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*326-16G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-16G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.154-16G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.550-16G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.217-16G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.549-16G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.217-16G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.441-16G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000578756
  gene symbol: SAP30BP
  hgvsc: ENST00000578756.1:n.23G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.492-964G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.489-964G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.599-16G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2156-16G>A
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21151
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

17-73699884-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699884
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699884
    reference: chr 17
allele count: 106
allele frequency: 8.731178544364272e-4
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.441-4G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.599-4G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*326-4G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-4G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.549-4G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2156-4G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.154-4G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.217-4G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.550-4G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.489-952G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.502-4G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.217-4G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.502-4G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000578756
  gene symbol: SAP30BP
  hgvsc: ENST00000578756.1:n.35G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.492-952G>T
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21218
  bin: 9.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.550-4G>T
num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-73699886-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699886
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699886
    reference: chr 17
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.441-2A>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.550-2A>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.599-2A>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.217-2A>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.502-2A>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.502-2A>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.154-2A>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.217-2A>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.549-2A>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000578756
  gene symbol: SAP30BP
  hgvsc: ENST00000578756.1:n.37A>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.489-2A>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*326-2A>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2156-2A>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.489-950A>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.492-950A>C
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.550-2A>C
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

17-73699889-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699889
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699889
    reference: chr 17
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.503A>G
  hgvsp: ENSP00000293208.9:p.Asp168Gly
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.503A>G
  hgvsp: ENSP00000347592.3:p.Asp168Gly
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.550A>G
  hgvsp: ENSP00000463545.1:p.Asp184Gly
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.489-947A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.218A>G
  hgvsp: ENSP00000463615.1:p.Asp73Gly
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2157A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.551A>G
  hgvsp: ENSP00000462116.1:p.Asp184Gly
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000578756
  gene symbol: SAP30BP
  hgvsc: ENST00000578756.1:n.40A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.218A>G
  hgvsp: ENSP00000462133.1:p.Asp73Gly
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.490A>G
  hgvsp: ENSP00000462166.1:p.Ile164Val
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*327A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.600A>G
  hgvsp: ENSP00000463758.1:p.Asp201Gly
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.492-947A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.155A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.442A>G
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21177
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp184Gly
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS

17-73699901-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699901
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699901
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.563C>G
  hgvsp: ENSP00000462116.1:p.Pro188Arg
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.230C>G
  hgvsp: ENSP00000462133.1:p.Pro77Arg
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.515C>G
  hgvsp: ENSP00000347592.3:p.Pro172Arg
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.515C>G
  hgvsp: ENSP00000293208.9:p.Pro172Arg
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*339C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.230C>G
  hgvsp: ENSP00000463615.1:p.Pro77Arg
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000578756
  gene symbol: SAP30BP
  hgvsc: ENST00000578756.1:n.52C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.492-935C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.489-935C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.167C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.562C>G
  hgvsp: ENSP00000463545.1:p.Pro188Arg
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.454C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.612C>G
  hgvsp: ENSP00000463758.1:p.Pro205Arg
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2169C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.502C>G
  hgvsp: ENSP00000462166.1:p.Pro168Ala
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4081
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro188Arg
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-73699907-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699907
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699907
    reference: chr 17
allele count: 35
allele frequency: 2.882841328413284e-4
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*345G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.618G>T
  hgvsp: ENSP00000463758.1:p.Gly207Val
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.236G>T
  hgvsp: ENSP00000463615.1:p.Gly79Val
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.569G>T
  hgvsp: ENSP00000462116.1:p.Gly190Val
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.521G>T
  hgvsp: ENSP00000347592.3:p.Gly174Val
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.460G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.521G>T
  hgvsp: ENSP00000293208.9:p.Gly174Val
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.236G>T
  hgvsp: ENSP00000462133.1:p.Gly79Val
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.492-929G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000578756
  gene symbol: SAP30BP
  hgvsc: ENST00000578756.1:n.58G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.568G>T
  hgvsp: ENSP00000463545.1:p.Gly190Val
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.173G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.489-929G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2175G>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.508G>T
  hgvsp: ENSP00000462166.1:p.Ala170Ser
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly190Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD

17-73699913-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699913
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699913
    reference: chr 17
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.624C>T
  hgvsp: ENSP00000463758.1:p.Ser209Phe
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.242C>T
  hgvsp: ENSP00000462133.1:p.Ser81Phe
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.574C>T
  hgvsp: ENSP00000463545.1:p.Ser192Phe
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.492-923C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.575C>T
  hgvsp: ENSP00000462116.1:p.Ser192Phe
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000578756
  gene symbol: SAP30BP
  hgvsc: ENST00000578756.1:n.64C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.466C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.527C>T
  hgvsp: ENSP00000293208.9:p.Ser176Phe
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.242C>T
  hgvsp: ENSP00000463615.1:p.Ser81Phe
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.527C>T
  hgvsp: ENSP00000347592.3:p.Ser176Phe
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.514C>T
  hgvsp: ENST00000582022.1:c.514C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*351C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.489-923C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2181C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.179C>T
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser192Phe
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

17-73699917-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699917
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699917
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.246G>A
  hgvsp: ENST00000583063.1:c.246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.628G>A
  hgvsp: ENST00000583536.1:c.628G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2185G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.470G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.492-919G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.489-919G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.518G>A
  hgvsp: ENSP00000462166.1:p.Arg173Lys
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.531G>A
  hgvsp: ENST00000293208.9:c.531G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.578G>A
  hgvsp: ENST00000580322.1:c.578G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*355G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.531G>A
  hgvsp: ENST00000355423.3:c.531G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000578756
  gene symbol: SAP30BP
  hgvsc: ENST00000578756.1:n.68G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.183G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.579G>A
  hgvsp: ENST00000584667.1:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.246G>A
  hgvsp: ENST00000584240.1:c.246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg173Lys
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

17-73699926-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699926
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699926
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.527C>T
  hgvsp: ENSP00000462166.1:p.Thr176Ile
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.255C>T
  hgvsp: ENST00000584240.1:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2194C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.588C>T
  hgvsp: ENST00000584667.1:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.637C>T
  hgvsp: ENST00000583536.1:c.637C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000578756
  gene symbol: SAP30BP
  hgvsc: ENST00000578756.1:n.77C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.192C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*364C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.540C>T
  hgvsp: ENST00000293208.9:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.492-910C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.255C>T
  hgvsp: ENST00000583063.1:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.540C>T
  hgvsp: ENST00000355423.3:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.489-910C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.587C>T
  hgvsp: ENST00000580322.1:c.587C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.479C>T
  variant of: http://identifiers.org/hgnc/30785
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4080
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr176Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

17-73699928-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699928
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699928
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.639A>G
  hgvsp: ENSP00000463758.1:p.Tyr214Cys
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.481A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.492-908A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.589A>G
  hgvsp: ENSP00000463545.1:p.Tyr197Cys
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*366A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.194A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.590A>G
  hgvsp: ENSP00000462116.1:p.Tyr197Cys
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.542A>G
  hgvsp: ENSP00000347592.3:p.Tyr181Cys
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.257A>G
  hgvsp: ENSP00000463615.1:p.Tyr86Cys
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2196A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.257A>G
  hgvsp: ENSP00000462133.1:p.Tyr86Cys
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.542A>G
  hgvsp: ENSP00000293208.9:p.Tyr181Cys
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.529A>G
  hgvsp: ENSP00000462166.1:p.Met177Val
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.489-908A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000578756
  gene symbol: SAP30BP
  hgvsc: ENST00000578756.1:n.79A>G
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr197Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/17-73699944-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699944
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699944
    reference: chr 17
allele count: 11
allele frequency: 9.060358460727464e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*377+5C>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.601+5C>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.600+5C>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.553+5C>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.489-892C>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.650+5C>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2207+5C>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.268+5C>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000578756
  gene symbol: SAP30BP
  hgvsc: ENST00000578756.1:n.90+5C>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.205+5C>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.492+5C>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.553+5C>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.268+5C>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.492-892C>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.*5C>A
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21186
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.601+5C>A
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD

17-73699950-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699950
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699950
    reference: chr 17
allele count: 310
allele frequency: 2.553457876182004e-3
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.205+11G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.268+11G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.600+11G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.268+11G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.489-886G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.601+11G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.553+11G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000578756
  gene symbol: SAP30BP
  hgvsc: ENST00000578756.1:n.90+11G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*377+11G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2207+11G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.*11G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.492+11G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.553+11G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.492-886G>A
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.650+11G>A
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21326
  bin: 9.75e1
  variant carriers: 223
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
num of homozygotes: 5
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

17-73699952-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699952
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699952
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.268+13C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.553+13C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.650+13C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.489-884C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.601+13C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.205+13C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.268+13C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.600+13C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2207+13C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.*13C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.553+13C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000578756
  gene symbol: SAP30BP
  hgvsc: ENST00000578756.1:n.90+13C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*377+13C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.492+13C>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.492-884C>G
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

17-73699956-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699956
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699956
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.553+17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.268+17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.205+17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.650+17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.601+17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.*17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.268+17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000578756
  gene symbol: SAP30BP
  hgvsc: ENST00000578756.1:n.90+17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.489-880C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.600+17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.492+17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*377+17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.492-880C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.553+17C>T
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2207+17C>T
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

17-73699962-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699962
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699962
    reference: chr 17
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.553+23A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.*23A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.205+23A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.268+23A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.601+23A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.492+23A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2207+23A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.650+23A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.492-874A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.553+23A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*377+23A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.268+23A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000578756
  gene symbol: SAP30BP
  hgvsc: ENST00000578756.1:n.90+23A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.600+23A>G
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.489-874A>G
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-73699965-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73699965
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73699965
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462116
  ensembl transcript: ENST00000584667
  gene symbol: SAP30BP
  hgvsc: ENST00000584667.1:c.601+26T>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000583329
  gene symbol: SAP30BP
  hgvsc: ENST00000583329.1:n.492+26T>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000464459
  ensembl transcript: ENST00000579877
  gene symbol: SAP30BP
  hgvsc: ENST00000579877.1:c.*377+26T>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462133
  ensembl transcript: ENST00000583063
  gene symbol: SAP30BP
  hgvsc: ENST00000583063.1:c.268+26T>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000581207
  gene symbol: SAP30BP
  hgvsc: ENST00000581207.1:n.205+26T>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463545
  ensembl transcript: ENST00000580322
  gene symbol: SAP30BP
  hgvsc: ENST00000580322.1:c.600+26T>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000293208
  ensembl transcript: ENST00000293208
  gene symbol: SAP30BP
  hgvsc: ENST00000293208.9:c.553+26T>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000446117
  ensembl transcript: ENST00000542343
  gene symbol: SAP30BP
  hgvsc: ENST00000542343.1:c.489-871T>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000578756
  gene symbol: SAP30BP
  hgvsc: ENST00000578756.1:n.90+26T>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580484
  gene symbol: SAP30BP
  hgvsc: ENST00000580484.1:n.492-871T>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000347592
  ensembl transcript: ENST00000355423
  gene symbol: SAP30BP
  hgvsc: ENST00000355423.3:c.553+26T>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463615
  ensembl transcript: ENST00000584240
  gene symbol: SAP30BP
  hgvsc: ENST00000584240.1:c.268+26T>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000463758
  ensembl transcript: ENST00000583536
  gene symbol: SAP30BP
  hgvsc: ENST00000583536.1:c.650+26T>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl protein: ENSP00000462166
  ensembl transcript: ENST00000582022
  gene symbol: SAP30BP
  hgvsc: ENST00000582022.1:c.*26T>C
  variant of: http://identifiers.org/hgnc/30785
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161526
  ensembl transcript: ENST00000580601
  gene symbol: SAP30BP
  hgvsc: ENST00000580601.1:n.2207+26T>C
  variant of: http://identifiers.org/hgnc/30785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21195
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: T

GenotypeDepth
all individuals: 6139
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7174
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 460
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1276
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1698
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 77
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2556
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1348
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1231
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31582
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2576
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2377
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2031
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7729
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16216
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: 6492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65802
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.736676568233443e-5
allele num: 11446
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.98e-1

QD
type: SiteQuality
SIO_000300: 8.19e0

DP
type: SiteQuality
SIO_000300: 1.531135e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.128e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.15e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.149999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.025e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeDepth
all individuals: 24
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 941
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 58
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7669
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1237
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2260
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1680
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1361
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32642
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2083
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2503
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2013
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 658
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1225
bin: 8.25e1
variant carriers: 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: 1
allele frequency: 1.520496289989052e-5
allele num: 65768
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16202
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
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DP
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QD
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FS
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BaseQRankSum
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MQ
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

East Asian
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Other
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQ
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FS
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VQSLOD
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BaseQRankSum
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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African
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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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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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BaseQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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FS
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MQRankSum
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QD
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InbreedingCoeff
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 2
allele frequency: 3.045901739209893e-5
allele num: 65662
num of homozygotes: 0

African
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allele frequency: 4.898119122257053e-4
allele num: 10208
num of homozygotes: 0

Latino
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allele num: 11448
num of homozygotes: 0

European (Finnish)
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allele count: 0
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South Asian
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allele num: 16224
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East Asian
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Other
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QD
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VQSLOD
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BaseQRankSum
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MQ
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FS
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
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DP
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 65766
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East Asian
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allele num: 8624
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European (Finnish)
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Latino
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Other
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African
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQ
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FS
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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Other
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East Asian
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African
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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FS
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MQRankSum
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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African
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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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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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FS
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QD
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MQ
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VQSLOD
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SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.85e-1

DP
type: SiteQuality
SIO_000300: 1.57966e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
all individuals: 2005
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GenotypeQuality
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GenotypeQuality
all individuals: 1951
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65780
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.719916288803627e-5
allele num: 11468
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.145526057030482e-5
allele num: 16272
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.319647413593134e-4
allele num: 8622
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.926e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.97e-1

DP
type: SiteQuality
SIO_000300: 1.581185e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
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SIO_000300: 2.21e-1

FS
type: SiteQuality
SIO_000300: 9.727e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.42e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.03960606705371e-5
allele num: 65798
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

South 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: 890
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.582252e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.545e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

QD
type: SiteQuality
SIO_000300: 1.634e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 7.428e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e-1

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
all individuals: 496
bin: 8.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

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

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

Latino
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allele count: 1
allele frequency: 8.722958827634333e-5
allele num: 11464
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65798
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.428e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.545e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.634e1

DP
type: SiteQuality
SIO_000300: 1.582252e6

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.140243153628883e-5
allele num: 16286
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.507e0

FS
type: SiteQuality
SIO_000300: 2.257e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.08e-1

VQSLOD
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.535e1

MQ
type: SiteQuality
SIO_000300: 6.034e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

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

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65868
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6520
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
type: Population
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allele frequency: 0.0e0
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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

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: 6.137228427642077e-5
allele num: 16294
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.62e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.591039e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.94e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 24
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7604
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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: 16294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517957436473481e-5
allele num: 65878
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-2

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.035e0

DP
type: SiteQuality
SIO_000300: 1.592269e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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bin: 3.25e1
variant carriers: 0

GenotypeDepth
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bin: 8.25e1
variant carriers: 0

GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeDepth
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bin: 7.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 139
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variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16298
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65900
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.596416e6

MQRankSum
type: SiteQuality
SIO_000300: -4.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.63e-1

QD
type: SiteQuality
SIO_000300: 1.13e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.93e1

GenotypeDepth
all individuals: 26047
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variant carriers: 0

GenotypeDepth
all individuals: 348
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variant carriers: 0

GenotypeDepth
all individuals: 901
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
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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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bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2004
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7612
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42666
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16298
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.748488984207447e-5
allele num: 10258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.069802731411229e-5
allele num: 65900
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.13e1

DP
type: SiteQuality
SIO_000300: 1.596416e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.03e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 902
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 4
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 12
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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
all individuals: 7611
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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
all individuals: 42800
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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: 1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517450682852807e-5
allele num: 65900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16294
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.799e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: -1.59e-2

FS
type: SiteQuality
SIO_000300: 3.295e0

QD
type: SiteQuality
SIO_000300: 9.199999999999999e0

DP
type: SiteQuality
SIO_000300: 1.596851e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 221
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GenotypeQuality
all individuals: 68
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 1994
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 488
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16266
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
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: 1
allele frequency: 1.518233990222573e-5
allele num: 65866
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

QD
type: SiteQuality
SIO_000300: 1.051e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-2

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.862e-1

DP
type: SiteQuality
SIO_000300: 1.595838e6

MQRankSum
type: SiteQuality
SIO_000300: 2.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

GenotypeDepth
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bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 56
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variant carriers: 0

GenotypeDepth
all individuals: 6
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519433555170632e-5
allele num: 65814
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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -8.57e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.352e1

DP
type: SiteQuality
SIO_000300: 1.593783e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 6
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GenotypeDepth
all individuals: 25
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1913
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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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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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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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520635017183176e-5
allele num: 65762
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16230
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.619e0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
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SIO_000300: 3.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.52e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.27e0

GenotypeDepth
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variant carriers: 0

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

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

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

European (Non-Finnish)
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Other
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South Asian
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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MQ
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BaseQRankSum
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FS
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ClippingRankSum
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DP
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Other
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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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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

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

South Asian
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allele frequency: 0.0e0
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Latino
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allele num: 10844
num of homozygotes: 0

DP
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MQ
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QD
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MQRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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SIO_000300: 3.42e-1

InbreedingCoeff
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.593219258834401e-5
allele num: 62766
num of homozygotes: 0

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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num of homozygotes: 0

Other
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South Asian
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European (Finnish)
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num of homozygotes: 0

African
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MQRankSum
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ReadPosRankSum
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MQ
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FS
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DP
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QD
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 9682
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

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

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

East Asian
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European (Finnish)
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Latino
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South Asian
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African
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European (Non-Finnish)
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InbreedingCoeff
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FS
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ReadPosRankSum
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BaseQRankSum
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QD
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MQRankSum
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MQ
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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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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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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62252
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.650709805216243e-4
allele num: 6058
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.65e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
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SIO_000300: 7.21e0

FS
type: SiteQuality
SIO_000300: 2.826e0

InbreedingCoeff
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SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
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MQRankSum
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SIO_000300: -7.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.613e0

DP
type: SiteQuality
SIO_000300: 1.335183e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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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variant carriers: 0

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

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.612487100103199e-5
allele num: 62016
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6050
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-1

DP
type: SiteQuality
SIO_000300: 1.308005e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
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SIO_000300: 1.113e1

ClippingRankSum
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SIO_000300: 3.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.389999999999999e-1

BaseQRankSum
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SIO_000300: -1.511e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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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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bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6018
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61656
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8138
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.469142191745374e-5
allele num: 15458
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.933e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.12e-1

FS
type: SiteQuality
SIO_000300: 1.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e-1

DP
type: SiteQuality
SIO_000300: 1.263222e6

QD
type: SiteQuality
SIO_000300: 7.18e0

GenotypeDepth
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bin: 6.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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GenotypeQuality
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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
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.044495508669313e-4
allele num: 9574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8138
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6018
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.933e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

QD
type: SiteQuality
SIO_000300: 7.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

DP
type: SiteQuality
SIO_000300: 1.263222e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.12e-1

FS
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
SIO_000300: -7.474e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61408
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5962
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8086
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 2
allele frequency: 1.296344309048483e-4
allele num: 15428
num of homozygotes: 0

InbreedingCoeff
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BaseQRankSum
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FS
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SIO_000300: 2.095e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.336e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.62e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.673472119954482e-5
allele num: 59756
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
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num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.722237531000276e-5
allele num: 58064
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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ReadPosRankSum
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MQRankSum
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QD
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DP
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SIO_000300: 1.083006e6

BaseQRankSum
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SIO_000300: -3.001e0

FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -2.8e-3

ClippingRankSum
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SIO_000300: 9.62e-1

GenotypeDepth
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variant carriers: 0

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.172e1

ClippingRankSum
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SIO_000300: 1.83e-1

InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 2.408e0

BaseQRankSum
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MQ
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SIO_000300: 5.949e1

DP
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ReadPosRankSum
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SIO_000300: -4.71e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 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 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
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997961386257345e-5
allele num: 66712
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 count: 0
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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
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SIO_000300: 1.346e1

VQSLOD
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SIO_000300: 1.14e0

ClippingRankSum
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SIO_000300: -8.1e-2

BaseQRankSum
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MQRankSum
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SIO_000300: -1.15e-1

MQ
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SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 3.681e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-3

DP
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SIO_000300: 5.289755e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6614
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: 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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num of homozygotes: 0

African
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allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

Latino
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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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MQRankSum
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SIO_000300: 1.69e0

MQ
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SIO_000300: 5.96e1

DP
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FS
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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SIO_000300: -4.203e0

VQSLOD
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SIO_000300: -4.946e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

QD
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ReadPosRankSum
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SIO_000300: 2.69e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

African
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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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MQRankSum
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SIO_000300: -1.7e-1

ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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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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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
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East Asian
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South Asian
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Other
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Latino
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African
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European (Finnish)
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DP
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ClippingRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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VQSLOD
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QD
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BaseQRankSum
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

Latino
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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 frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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

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

ClippingRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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FS
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SIO_000300: 8.94e-1

ReadPosRankSum
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DP
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VQSLOD
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -4.773e0

DP
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SIO_000300: 5.293722e6

ClippingRankSum
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SIO_000300: -7.01e-1

MQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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South Asian
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InbreedingCoeff
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SIO_000300: 6.06e-2

BaseQRankSum
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SIO_000300: -2.454e0

MQ
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SIO_000300: 5.967e1

DP
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FS
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VQSLOD
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ClippingRankSum
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MQRankSum
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SIO_000300: 6.900000000000001e-2

ReadPosRankSum
type: SiteQuality
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QD
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 54

European (Finnish)
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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
allele num: 10406
num of homozygotes: 0

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

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

Other
type: Population
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Latino
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allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

South Asian
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allele count: 55
allele frequency: 3.330910852713178e-3
allele num: 16512
num of homozygotes: 2

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16512
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 69
allele frequency: 1.03398669304082e-3
allele num: 66732
num of homozygotes: 0

South Asian
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allele num: 16512
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East Asian
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European (Finnish)
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allele frequency: 4.989416389476867e-3
allele num: 6614
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Other
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African
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allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
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Latino
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allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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Latino
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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allele num: 66732
num of homozygotes: 0

East Asian
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South Asian
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VQSLOD
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ReadPosRankSum
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MQRankSum
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FS
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DP
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BaseQRankSum
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MQ
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InbreedingCoeff
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9.609840476648087e-5
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Latino
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South Asian
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ClippingRankSum
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VQSLOD
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MQRankSum
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DP
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MQ
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InbreedingCoeff
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QD
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BaseQRankSum
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ReadPosRankSum
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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European (Non-Finnish)
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Latino
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African
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South Asian
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European (Finnish)
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DP
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FS
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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MQ
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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allele num: 66738
num of homozygotes: 0

South Asian
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Other
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East Asian
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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VQSLOD
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FS
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DP
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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Latino
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East Asian
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European (Finnish)
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South Asian
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European (Non-Finnish)
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQRankSum
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FS
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MQ
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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European (Finnish)
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East Asian
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South Asian
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European (Non-Finnish)
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FS
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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DP
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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Other
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South Asian
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African
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East Asian
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European (Finnish)
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MQ
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BaseQRankSum
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DP
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ReadPosRankSum
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QD
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FS
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VQSLOD
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InbreedingCoeff
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MQRankSum
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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 (Finnish)
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Other
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African
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East Asian
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South Asian
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European (Non-Finnish)
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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MQRankSum
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FS
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MQ
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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South Asian
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European (Non-Finnish)
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East Asian
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Latino
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Other
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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FS
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DP
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MQRankSum
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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European (Finnish)
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MQRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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DP
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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QD
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BaseQRankSum
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FS
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MQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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African
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European (Non-Finnish)
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European (Finnish)
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East Asian
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QD
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VQSLOD
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InbreedingCoeff
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FS
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MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.884e0

MQRankSum
type: SiteQuality
SIO_000300: -5.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.797e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

DP
type: SiteQuality
SIO_000300: 5.296756e6

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

GenotypeDepth
all individuals: 887
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21196
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3493
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1734
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4641
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4208
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 589
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 747
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1678
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55172
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.295e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.11e-1

FS
type: SiteQuality
SIO_000300: 3.8e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.92e-1

DP
type: SiteQuality
SIO_000300: 5.296459e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.33e-1

GenotypeDepth
all individuals: 4209
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4513
bin: 8.75e1
variant carriers: 0

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