17-39988689-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39988689
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39988689
    reference: chr 17
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.558A>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.653A>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*190A>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.269A>T
  hgvsp: ENSP00000389948.2:p.Asp90Val
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.170A>T
  hgvsp: ENSP00000429878.1:p.Asp57Val
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.497A>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.666A>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.269A>T
  hgvsp: ENSP00000397742.1:p.Asp90Val
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*147A>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.245A>T
  hgvsp: ENSP00000269534.8:p.Asp82Val
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000517701
  gene symbol: NT5C3B
  hgvsc: ENST00000517701.1:n.52A>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.799A>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.582A>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.597A>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000481693
  gene symbol: NT5C3B
  hgvsc: ENST00000481693.1:n.230A>T
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp90Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

17-39988691-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39988691
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39988691
    reference: chr 17
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.580C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*145C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.243C>T
  hgvsp: ENST00000269534.8:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.267C>T
  hgvsp: ENST00000415460.1:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.651C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.556C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.595C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000481693
  gene symbol: NT5C3B
  hgvsc: ENST00000481693.1:n.228C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.664C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.168C>T
  hgvsp: ENST00000521789.1:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.797C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*188C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.495C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.267C>T
  hgvsp: ENST00000435506.2:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000517701
  gene symbol: NT5C3B
  hgvsc: ENST00000517701.1:n.50C>T
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile89Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

17-39988691-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39988691
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39988691
    reference: chr 17
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.651C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*188C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.664C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.580C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000517701
  gene symbol: NT5C3B
  hgvsc: ENST00000517701.1:n.50C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.556C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.267C>A
  hgvsp: ENST00000435506.2:c.267C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*145C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.168C>A
  hgvsp: ENST00000521789.1:c.168C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.495C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.267C>A
  hgvsp: ENST00000415460.1:c.267C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000481693
  gene symbol: NT5C3B
  hgvsc: ENST00000481693.1:n.228C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.595C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.797C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.243C>A
  hgvsp: ENST00000269534.8:c.243C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile89Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

17-39988694-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39988694
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39988694
    reference: chr 17
allele count: 3
allele frequency: 2.471984179301253e-5
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.240G>A
  hgvsp: ENST00000269534.8:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*185G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.264G>A
  hgvsp: ENST00000435506.2:c.264G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.648G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.661G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.794G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*142G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.264G>A
  hgvsp: ENST00000415460.1:c.264G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.165G>A
  hgvsp: ENST00000521789.1:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000481693
  gene symbol: NT5C3B
  hgvsc: ENST00000481693.1:n.225G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.553G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000517701
  gene symbol: NT5C3B
  hgvsc: ENST00000517701.1:n.47G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.592G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.492G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.577G>A
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu88Glu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

17-39988698-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39988698
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39988698
    reference: chr 17
allele count: 7
allele frequency: 5.768153202149049e-5
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.236T>C
  hgvsp: ENSP00000269534.8:p.Ile79Thr
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.260T>C
  hgvsp: ENSP00000389948.2:p.Ile87Thr
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.573T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.161T>C
  hgvsp: ENSP00000429878.1:p.Ile54Thr
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*138T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.260T>C
  hgvsp: ENSP00000397742.1:p.Ile87Thr
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000481693
  gene symbol: NT5C3B
  hgvsc: ENST00000481693.1:n.221T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*181T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000517701
  gene symbol: NT5C3B
  hgvsc: ENST00000517701.1:n.43T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.657T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.790T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.549T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.588T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.644T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.488T>C
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile87Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS

17-39988699-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39988699
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39988699
    reference: chr 17
allele count: 5
allele frequency: 4.120177332432388e-5
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.259A>G
  hgvsp: ENSP00000397742.1:p.Ile87Val
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000481693
  gene symbol: NT5C3B
  hgvsc: ENST00000481693.1:n.220A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.587A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.235A>G
  hgvsp: ENSP00000269534.8:p.Ile79Val
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.572A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000517701
  gene symbol: NT5C3B
  hgvsc: ENST00000517701.1:n.42A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.160A>G
  hgvsp: ENSP00000429878.1:p.Ile54Val
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.259A>G
  hgvsp: ENSP00000389948.2:p.Ile87Val
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.656A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*180A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*137A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.548A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.789A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.643A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.487A>G
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19947
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile87Val
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP

17-39988707-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39988707
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39988707
    reference: chr 17
allele count: 13
allele frequency: 1.071281417387721e-4
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.564A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.227A>G
  hgvsp: ENSP00000269534.8:p.Tyr76Cys
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.579A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.152A>G
  hgvsp: ENSP00000429878.1:p.Tyr51Cys
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.251A>G
  hgvsp: ENSP00000389948.2:p.Tyr84Cys
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.648A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.251A>G
  hgvsp: ENSP00000397742.1:p.Tyr84Cys
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.479A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.635A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*129A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000517701
  gene symbol: NT5C3B
  hgvsc: ENST00000517701.1:n.34A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000481693
  gene symbol: NT5C3B
  hgvsc: ENST00000481693.1:n.212A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.781A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*172A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.540A>G
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr84Cys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

17-39988712-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39988712
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39988712
    reference: chr 17
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.630C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000481693
  gene symbol: NT5C3B
  hgvsc: ENST00000481693.1:n.207C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*167C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.246C>T
  hgvsp: ENST00000435506.2:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000517701
  gene symbol: NT5C3B
  hgvsc: ENST00000517701.1:n.29C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.222C>T
  hgvsp: ENST00000269534.8:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.147C>T
  hgvsp: ENST00000521789.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*124C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.474C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.559C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.246C>T
  hgvsp: ENST00000415460.1:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.776C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.574C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.535C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.643C>T
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19944
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His82His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

17-39988716-AGGAGCGCTGTGAGCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39988716
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39988701
    reference: chr 17
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000481693
  gene symbol: NT5C3B
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000517701
  gene symbol: NT5C3B
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: splice acceptor
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.229-2_241delAGCTCACAGCGCTCC
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: AGGAGCGCTGTGAGCT
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD

17-39988720-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39988720
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39988720
    reference: chr 17
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000517701
  gene symbol: NT5C3B
  hgvsc: ENST00000517701.1:n.21C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.238C>T
  hgvsp: ENSP00000389948.2:p.Leu80Phe
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.139C>T
  hgvsp: ENSP00000429878.1:p.Leu47Phe
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*116C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.768C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.635C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.551C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*159C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.527C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.214C>T
  hgvsp: ENSP00000269534.8:p.Leu72Phe
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.238C>T
  hgvsp: ENSP00000397742.1:p.Leu80Phe
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.622C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000481693
  gene symbol: NT5C3B
  hgvsc: ENST00000481693.1:n.199C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.466C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.566C>T
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu80Phe
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

17-39988722-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39988722
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39988722
    reference: chr 17
allele count: 6
allele frequency: 4.945679948564928e-5
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.236C>T
  hgvsp: ENSP00000397742.1:p.Ala79Val
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.525C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.212C>T
  hgvsp: ENSP00000269534.8:p.Ala71Val
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000481693
  gene symbol: NT5C3B
  hgvsc: ENST00000481693.1:n.197C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.564C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.549C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*157C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.137C>T
  hgvsp: ENSP00000429878.1:p.Ala46Val
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.236C>T
  hgvsp: ENSP00000389948.2:p.Ala79Val
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000517701
  gene symbol: NT5C3B
  hgvsc: ENST00000517701.1:n.19C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.766C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.620C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.464C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.633C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*114C>T
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala79Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

17-39988734-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39988734
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39988734
    reference: chr 17
allele count: 2
allele frequency: 1.649049323065253e-5
allele num: 121282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.205-5C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.613-5C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.626-5C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.130-5C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.518-5C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*107-5C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.229-5C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000517701
  gene symbol: NT5C3B
  hgvsc: ENST00000517701.1:n.7C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*150-5C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.229-5C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.759-5C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.457-5C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000481693
  gene symbol: NT5C3B
  hgvsc: ENST00000481693.1:n.185C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.557-5C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.542-5C>T
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.229-5C>T
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: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/17-39988735-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39988735
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39988735
    reference: chr 17
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.613-6T>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.229-6T>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*150-6T>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.205-6T>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.229-6T>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.759-6T>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.457-6T>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.518-6T>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000481693
  gene symbol: NT5C3B
  hgvsc: ENST00000481693.1:n.184T>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.130-6T>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.557-6T>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*107-6T>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.542-6T>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000517701
  gene symbol: NT5C3B
  hgvsc: ENST00000517701.1:n.6T>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.626-6T>G
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.229-6T>G
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

17-39988752-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39988752
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39988752
    reference: chr 17
allele count: 812
allele frequency: 6.704648666501527e-3
allele num: 121110
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.557-23T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.613-23T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.229-23T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000481693
  gene symbol: NT5C3B
  hgvsc: ENST00000481693.1:n.167T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*107-23T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.759-23T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.205-23T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.518-23T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.229-23T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.130-23T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.626-23T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*150-23T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.542-23T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.457-23T>C
  variant of: http://identifiers.org/hgnc/28300
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 3.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 4.25e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5353
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 4.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 9.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 19275
  bin: 2.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 5.75e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 56
genotype quality: GenotypeQuality
num of homozygotes: 5
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-39988758-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39988758
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39988758
    reference: chr 17
allele count: 1
allele frequency: 8.261458643138033e-6
allele num: 121044
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.457-29T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.518-29T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000481693
  gene symbol: NT5C3B
  hgvsc: ENST00000481693.1:n.161T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.759-29T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.130-29T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.205-29T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.557-29T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.229-29T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*107-29T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.613-29T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*150-29T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.229-29T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.542-29T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.626-29T>C
  variant of: http://identifiers.org/hgnc/28300
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

17-39988775-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39988775
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39988775
    reference: chr 17
allele count: 1
allele frequency: 8.277597510098669e-6
allele num: 120808
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.229-46A>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.457-46A>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.626-46A>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*107-46A>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.130-46A>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000481693
  gene symbol: NT5C3B
  hgvsc: ENST00000481693.1:n.144A>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.542-46A>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.613-46A>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.205-46A>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.229-46A>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.557-46A>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.518-46A>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.759-46A>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*150-46A>C
  variant of: http://identifiers.org/hgnc/28300
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum

17-39991279-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991279
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991279
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*149+43C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.529+43C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.758+43C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.228+43C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.541+43C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.517+43C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.129+43C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.556+43C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.228+43C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.612+43C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.456+43C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*106+43C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.204+43C>T
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

17-39991284-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991284
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991284
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*149+38A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.456+38A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.612+38A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*106+38A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.517+38A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.541+38A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.556+38A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.228+38A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.129+38A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.529+38A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.228+38A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.204+38A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.758+38A>G
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/17-39991287-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991287
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991286
    reference: chr 17
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*106+34delT
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.228+34delT
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.529+34delT
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.556+34delT
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.204+34delT
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.129+34delT
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.228+34delT
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.612+34delT
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.541+34delT
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.758+34delT
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.517+34delT
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*149+34delT
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.456+34delT
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 7709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: CA
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

17-39991308-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991308
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991308
    reference: chr 17
allele count: 5
allele frequency: 4.118412599047823e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.758+14G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.204+14G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.456+14G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.517+14G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.612+14G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.556+14G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.129+14G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.541+14G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.529+14G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.228+14G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.228+14G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*149+14G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*106+14G>A
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

17-39991308-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991308
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991307
    reference: chr 17
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*106+13delC
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.612+13delC
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.541+13delC
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*149+13delC
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.556+13delC
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.228+13delC
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.228+13delC
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.129+13delC
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.517+13delC
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.456+13delC
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.529+13delC
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.204+13delC
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.758+13delC
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7709
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: CG
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

17-39991309-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991309
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991309
    reference: chr 17
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*106+13C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.517+13C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.556+13C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.228+13C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.529+13C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.456+13C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.612+13C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.204+13C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.129+13C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.758+13C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.541+13C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.228+13C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*149+13C>T
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-39991317-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991317
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991317
    reference: chr 17
allele count: 330
allele frequency: 2.718062762540153e-3
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.228+5G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.529+5G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*149+5G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.612+5G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.204+5G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.758+5G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.517+5G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.541+5G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.228+5G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.456+5G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*106+5G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.129+5G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.556+5G>A
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7701
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 14836
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: c.228+5G>A
num of homozygotes: 2
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

17-39991325-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991325
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991325
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.526A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.225A>G
  hgvsp: ENST00000435506.2:c.225A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.453A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.225A>G
  hgvsp: ENST00000415460.1:c.225A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.553A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*103A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.201A>G
  hgvsp: ENST00000269534.8:c.201A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.538A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.126A>G
  hgvsp: ENST00000521789.1:c.126A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*146A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.514A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.755A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.609A>G
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys75Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

17-39991333-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991333
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991333
    reference: chr 17
allele count: 4
allele frequency: 3.294621530351701e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.118T>C
  hgvsp: ENSP00000429878.1:p.Cys40Arg
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*95T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.518T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.217T>C
  hgvsp: ENSP00000397742.1:p.Cys73Arg
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.530T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.217T>C
  hgvsp: ENSP00000389948.2:p.Cys73Arg
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.545T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.506T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*138T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.193T>C
  hgvsp: ENSP00000269534.8:p.Cys65Arg
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.601T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.747T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.445T>C
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21054
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys73Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

17-39991335-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991335
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991335
    reference: chr 17
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*136A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.516A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.330A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*93A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.745A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.116A>G
  hgvsp: ENSP00000429878.1:p.Glu39Gly
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.443A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.599A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.191A>G
  hgvsp: ENSP00000269534.8:p.Glu64Gly
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.528A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.504A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.215A>G
  hgvsp: ENSP00000397742.1:p.Glu72Gly
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.215A>G
  hgvsp: ENSP00000389948.2:p.Glu72Gly
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.543A>G
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu72Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/17-39991339-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991339
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991339
    reference: chr 17
allele count: 6
allele frequency: 4.941932295527551e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.211G>T
  hgvsp: ENSP00000389948.2:p.Glu71Ter
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.187G>T
  hgvsp: ENSP00000269534.8:p.Glu63Ter
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.500G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.741G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.211G>T
  hgvsp: ENSP00000397742.1:p.Glu71Ter
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.524G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.539G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.512G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*89G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.326G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.112G>T
  hgvsp: ENSP00000429878.1:p.Glu38Ter
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.439G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.595G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*132G>T
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu71Ter
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

17-39991345-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991345
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991345
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.106A>G
  hgvsp: ENSP00000429878.1:p.Ile36Val
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.205A>G
  hgvsp: ENSP00000397742.1:p.Ile69Val
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.181A>G
  hgvsp: ENSP00000269534.8:p.Ile61Val
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.320A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.506A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*126A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.533A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.589A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.518A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*83A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.205A>G
  hgvsp: ENSP00000389948.2:p.Ile69Val
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.494A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.735A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.433A>G
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile69Val
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

17-39991354-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991354
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991354
    reference: chr 17
allele count: 7
allele frequency: 5.765682656826568e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.497A>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.196A>T
  hgvsp: ENSP00000397742.1:p.Ser66Cys
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.311A>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*74A>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.196A>T
  hgvsp: ENSP00000389948.2:p.Ser66Cys
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.97A>T
  hgvsp: ENSP00000429878.1:p.Ser33Cys
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.524A>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.580A>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*117A>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.172A>T
  hgvsp: ENSP00000269534.8:p.Ser58Cys
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.424A>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.485A>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.726A>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.509A>T
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
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: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser66Cys
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

17-39991355-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991355
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991355
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*73T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.484T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.423T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.195T>C
  hgvsp: ENST00000435506.2:c.195T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.195T>C
  hgvsp: ENST00000415460.1:c.195T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.496T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.579T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.96T>C
  hgvsp: ENST00000521789.1:c.96T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.725T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.171T>C
  hgvsp: ENST00000269534.8:c.171T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.523T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*116T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.508T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.310T>C
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asn65Asn
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

17-39991358-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991358
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991358
    reference: chr 17
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.576T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.420T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.93T>C
  hgvsp: ENST00000521789.1:c.93T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.168T>C
  hgvsp: ENST00000269534.8:c.168T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.192T>C
  hgvsp: ENST00000415460.1:c.192T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.192T>C
  hgvsp: ENST00000435506.2:c.192T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.505T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.520T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*70T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.307T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.493T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*113T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.722T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.481T>C
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp64Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

17-39991359-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991359
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991359
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.504A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.167A>G
  hgvsp: ENSP00000269534.8:p.Asp56Gly
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.191A>G
  hgvsp: ENSP00000389948.2:p.Asp64Gly
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.575A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*69A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.419A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.519A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.306A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.92A>G
  hgvsp: ENSP00000429878.1:p.Asp31Gly
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.191A>G
  hgvsp: ENSP00000397742.1:p.Asp64Gly
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*112A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.492A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.721A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.480A>G
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp64Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

17-39991369-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991369
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991369
    reference: chr 17
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*103-1G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.471-1G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.510-1G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*60-1G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.495-1G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.297-1G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.182-1G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.712-1G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.83-1G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.158-1G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.483-1G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.410-1G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.566-1G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.182-1G>C
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.182-1G>C
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

17-39991372-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991372
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991372
    reference: chr 17
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*60-4C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.495-4C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.182-4C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.566-4C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.471-4C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.182-4C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.510-4C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*103-4C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.297-4C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.83-4C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.410-4C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.158-4C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.712-4C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.483-4C>A
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.182-4C>A
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

17-39991384-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991384
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991384
    reference: chr 17
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.471-16T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.483-16T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.297-16T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.158-16T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.83-16T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.495-16T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.510-16T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*60-16T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.410-16T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.566-16T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.182-16T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*103-16T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.182-16T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.712-16T>C
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: A
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

17-39991399-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991399
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991399
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.510-31G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.410-31G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*60-31G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.712-31G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.471-31G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.566-31G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.182-31G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.495-31G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.483-31G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.297-31G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*103-31G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.83-31G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.158-31G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.182-31G>A
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7742
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

17-39991404-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991404
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991404
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.495-36T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.182-36T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.471-36T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.158-36T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.566-36T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.483-36T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.297-36T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.712-36T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.410-36T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.510-36T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*103-36T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*60-36T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.83-36T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.182-36T>C
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

17-39991406-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991406
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991406
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.566-38T>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.83-38T>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.495-38T>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.510-38T>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.297-38T>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.182-38T>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.471-38T>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.483-38T>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*60-38T>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.158-38T>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.712-38T>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*103-38T>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.182-38T>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.410-38T>A
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-39991409-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991409
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991409
    reference: chr 17
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.158-41G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.297-41G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*60-41G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.471-41G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.83-41G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.566-41G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.182-41G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*103-41G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.510-41G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.495-41G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.410-41G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.182-41G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.712-41G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.483-41G>T
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS

17-39991409-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991409
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991409
    reference: chr 17
allele count: 4
allele frequency: 3.294947198471145e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.712-41G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.483-41G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.182-41G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.83-41G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.495-41G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*60-41G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.471-41G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*103-41G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.297-41G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.510-41G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.410-41G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.182-41G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.566-41G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.158-41G>A
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14902
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

17-39991414-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991414
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991414
    reference: chr 17
allele count: 6
allele frequency: 4.942583653228331e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.711+41C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*59+41C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.565+41C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.157+41C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.296+41C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.181+41C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.494+41C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.409+41C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.509+41C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*102+41C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.482+41C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.181+41C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.82+41C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.470+41C>T
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

17-39991419-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991419
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991419
    reference: chr 17
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*59+36C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.470+36C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.494+36C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.157+36C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.296+36C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.711+36C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.482+36C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.509+36C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.565+36C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.409+36C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*102+36C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.181+36C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.181+36C>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.82+36C>A
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

17-39991421-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991421
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991421
    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: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.296+34G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.157+34G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*102+34G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.470+34G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.181+34G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.494+34G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.509+34G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.82+34G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.482+34G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.711+34G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*59+34G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.409+34G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.565+34G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.181+34G>C
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

17-39991428-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991428
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991428
    reference: chr 17
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.181+27T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.482+27T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.157+27T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.565+27T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*102+27T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.82+27T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.494+27T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.470+27T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.296+27T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.509+27T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.409+27T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.181+27T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*59+27T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.711+27T>C
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD

17-39991430-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991430
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991430
    reference: chr 17
allele count: 3
allele frequency: 2.47137325974133e-5
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.181+25G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.482+25G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.296+25G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.565+25G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*59+25G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.157+25G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.494+25G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.409+25G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.711+25G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.82+25G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.470+25G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.509+25G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*102+25G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.181+25G>C
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

17-39991440-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991440
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991440
    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: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.470+15A>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.482+15A>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.509+15A>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.181+15A>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.494+15A>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.409+15A>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.711+15A>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.157+15A>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.296+15A>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*102+15A>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*59+15A>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.565+15A>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.82+15A>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.181+15A>C
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

17-39991443-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991443
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991443
    reference: chr 17
allele count: 5
allele frequency: 4.118887570844866e-5
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.509+12T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.181+12T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.296+12T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.82+12T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.409+12T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*59+12T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.494+12T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.470+12T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.181+12T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.711+12T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.157+12T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*102+12T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.482+12T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.565+12T>C
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

17-39991453-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991453
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991453
    reference: chr 17
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.482+2T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.82+2T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.296+2T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.181+2T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*59+2T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*102+2T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.509+2T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.409+2T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.565+2T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.494+2T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.157+2T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.181+2T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.711+2T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.470+2T>C
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.181+2T>C
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP

17-39991454-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991454
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991454
    reference: chr 17
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.82+1G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.494+1G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.181+1G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*102+1G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.509+1G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.296+1G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.181+1G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.711+1G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.482+1G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*59+1G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.565+1G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.470+1G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.409+1G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.157+1G>C
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: splice donor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.181+1G>C
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

17-39991457-TAAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991457
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991454
    reference: chr 17
allele count: 4
allele frequency: 3.295272930980509e-5
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.504_506delCTT
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.560_562delCTT
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.77_79delCTT
  hgvsp: ENSP00000429878.1:p.Ser26del
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.291_293delCTT
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.152_154delCTT
  hgvsp: ENSP00000269534.8:p.Ser51del
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*97_*99delCTT
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.176_178delCTT
  hgvsp: ENSP00000397742.1:p.Ser59del
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.706_708delCTT
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.404_406delCTT
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*54_*56delCTT
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.477_479delCTT
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.489_491delCTT
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.465_467delCTT
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.176_178delCTT
  hgvsp: ENSP00000389948.2:p.Ser59del
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser59del
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: TAAG
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

17-39991466-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991466
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991466
    reference: chr 17
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*91C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.554C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.471C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.146C>T
  hgvsp: ENSP00000269534.8:p.Pro49Leu
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.170C>T
  hgvsp: ENSP00000389948.2:p.Pro57Leu
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.498C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.398C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.700C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.71C>T
  hgvsp: ENSP00000429878.1:p.Pro24Leu
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.170C>T
  hgvsp: ENSP00000397742.1:p.Pro57Leu
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.459C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*48C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.483C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.285C>T
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro57Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

17-39991470-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991470
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991470
    reference: chr 17
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.479T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.550T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.166T>C
  hgvsp: ENSP00000389948.2:p.Cys56Arg
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.142T>C
  hgvsp: ENSP00000269534.8:p.Cys48Arg
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.467T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.281T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*87T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.455T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.67T>C
  hgvsp: ENSP00000429878.1:p.Cys23Arg
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.494T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.166T>C
  hgvsp: ENSP00000397742.1:p.Cys56Arg
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*44T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.696T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.394T>C
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys56Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

17-39991486-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991486
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991486
    reference: chr 17
allele count: 3
allele frequency: 2.472106399459433e-5
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.150A>G
  hgvsp: ENST00000415460.1:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.478A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.126A>G
  hgvsp: ENST00000269534.8:c.126A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*71A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.451A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.680A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.463A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.265A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.150A>G
  hgvsp: ENST00000435506.2:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.51A>G
  hgvsp: ENST00000521789.1:c.51A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.378A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*28A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.534A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.439A>G
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala50Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: T
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-39991493-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991493
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991493
    reference: chr 17
allele count: 2
allele frequency: 1.648315421639085e-5
allele num: 121336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.471G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.673G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.143G>C
  hgvsp: ENSP00000397742.1:p.Arg48Thr
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.527G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.44G>C
  hgvsp: ENSP00000429878.1:p.Arg15Thr
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.444G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*64G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.371G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.119G>C
  hgvsp: ENSP00000269534.8:p.Arg40Thr
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*21G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.143G>C
  hgvsp: ENSP00000389948.2:p.Arg48Thr
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.432G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.456G>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.258G>C
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg48Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

17-39991495-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991495
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991495
    reference: chr 17
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.469C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.671C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.525C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.454C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.141C>T
  hgvsp: ENST00000415460.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.42C>T
  hgvsp: ENST00000521789.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*62C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.141C>T
  hgvsp: ENST00000435506.2:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.442C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.369C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*19C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.256C>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.117C>T
  hgvsp: ENST00000269534.8:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.430C>T
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser47Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-39991505-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991505
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991505
    reference: chr 17
allele count: 2
allele frequency: 1.648858989579211e-5
allele num: 121296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.107T>G
  hgvsp: ENSP00000269534.8:p.Met36Arg
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.444T>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.515T>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*9T>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.131T>G
  hgvsp: ENSP00000397742.1:p.Met44Arg
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.32T>G
  hgvsp: ENSP00000429878.1:p.Met11Arg
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.661T>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.131T>G
  hgvsp: ENSP00000389948.2:p.Met44Arg
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.359T>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.432T>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.420T>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*52T>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.459T>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.246T>G
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21016
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met44Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

17-39991505-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991505
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991505
    reference: chr 17
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.131T>C
  hgvsp: ENSP00000397742.1:p.Met44Thr
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.432T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.444T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.131T>C
  hgvsp: ENSP00000389948.2:p.Met44Thr
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.246T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.107T>C
  hgvsp: ENSP00000269534.8:p.Met36Thr
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.*9T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.32T>C
  hgvsp: ENSP00000429878.1:p.Met11Thr
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*52T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.459T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.359T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.515T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.661T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.420T>C
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21016
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met44Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

17-39991521-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991521
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991521
    reference: chr 17
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.91A>G
  hgvsp: ENSP00000269534.8:p.Ile31Val
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.499A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.115A>G
  hgvsp: ENSP00000397742.1:p.Ile39Val
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.443A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.428A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*36A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.16A>G
  hgvsp: ENSP00000429878.1:p.Ile6Val
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.416A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.115A>G
  hgvsp: ENSP00000389948.2:p.Ile39Val
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.218A>G
  hgvsp: ENSP00000392092.1:p.Asp73Gly
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.230A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.404A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.645A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.343A>G
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile39Val
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

17-39991525-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991525
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991525
    reference: chr 17
allele count: 1
allele frequency: 8.257365570088519e-6
allele num: 121104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.401-1G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.13-1G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.112-1G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.496-1G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.440-1G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*33-1G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.642-1G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.88-1G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.215-1G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.425-1G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.340-1G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.413-1G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.112-1G>A
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.226G>A
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: splice acceptor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 20751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.112-1G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

17-39991528-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991528
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991528
    reference: chr 17
allele count: 3
allele frequency: 2.47843759294141e-5
allele num: 121044
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.340-4A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.642-4A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.88-4A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.215-4A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.425-4A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.440-4A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.13-4A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.112-4A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*33-4A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.496-4A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.413-4A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.401-4A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.223A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.112-4A>G
  variant of: http://identifiers.org/hgnc/28300
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.112-4A>G
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ

17-39991535-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991535
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991535
    reference: chr 17
allele count: 3
allele frequency: 2.481964392084188e-5
allele num: 120872
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.425-11T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.642-11T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.496-11T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*33-11T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.413-11T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.13-11T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.401-11T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.88-11T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.112-11T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.440-11T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.216T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.215-11T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.340-11T>C
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.112-11T>C
  variant of: http://identifiers.org/hgnc/28300
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7637
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP

17-39991555-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991555
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991555
    reference: chr 17
allele count: 1
allele frequency: 8.300683976359652e-6
allele num: 120472
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.215-31A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.340-31A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.496-31A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.425-31A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.112-31A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.112-31A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.196A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.88-31A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.401-31A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.13-31A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.440-31A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.642-31A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*33-31A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.413-31A>G
  variant of: http://identifiers.org/hgnc/28300
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17110
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/17-39991562-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991562
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991562
    reference: chr 17
allele count: 1
allele frequency: 8.318360284820657e-6
allele num: 120216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.88-38G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.413-38G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.401-38G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.112-38G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.440-38G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.13-38G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.215-38G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.189G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.496-38G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.340-38G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*33-38G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.112-38G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.425-38G>T
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.642-38G>T
  variant of: http://identifiers.org/hgnc/28300
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ

17-39991567-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991567
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991567
    reference: chr 17
allele count: 1
allele frequency: 8.322375538873816e-6
allele num: 120158
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.401-43A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.184A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.13-43A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.496-43A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.88-43A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.215-43A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.642-43A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*33-43A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.413-43A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.440-43A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.112-43A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.425-43A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.112-43A>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.340-43A>G
  variant of: http://identifiers.org/hgnc/28300
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11261
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7074
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff

17-39991572-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 39991572
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 39991572
    reference: chr 17
allele count: 1
allele frequency: 8.352404657300837e-6
allele num: 119726
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000469698
  gene symbol: NT5C3B
  hgvsc: ENST00000469698.1:n.440-48C>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000393910
  gene symbol: NT5C3B
  hgvsc: ENST00000393910.1:n.340-48C>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000431066
  ensembl transcript: ENST00000475053
  gene symbol: NT5C3B
  hgvsc: ENST00000475053.1:c.*33-48C>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000460893
  gene symbol: NT5C3B
  hgvsc: ENST00000460893.2:n.413-48C>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000269534
  ensembl transcript: ENST00000269534
  gene symbol: NT5C3B
  hgvsc: ENST00000269534.8:c.88-48C>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000523903
  gene symbol: NT5C3B
  hgvsc: ENST00000523903.1:n.401-48C>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000495317
  gene symbol: NT5C3B
  hgvsc: ENST00000495317.1:n.496-48C>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000392092
  ensembl transcript: ENST00000445655
  gene symbol: NT5C3B
  hgvsc: ENST00000445655.1:c.215-48C>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000476921
  gene symbol: NT5C3B
  hgvsc: ENST00000476921.1:n.425-48C>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000429878
  ensembl transcript: ENST00000521789
  gene symbol: NT5C3B
  hgvsc: ENST00000521789.1:c.13-48C>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000520442
  gene symbol: NT5C3B
  hgvsc: ENST00000520442.1:n.179C>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000397742
  ensembl transcript: ENST00000415460
  gene symbol: NT5C3B
  hgvsc: ENST00000415460.1:c.112-48C>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl transcript: ENST00000470690
  gene symbol: NT5C3B
  hgvsc: ENST00000470690.1:n.642-48C>G
  variant of: http://identifiers.org/hgnc/28300
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141698
  ensembl protein: ENSP00000389948
  ensembl transcript: ENST00000435506
  gene symbol: NT5C3B
  hgvsc: ENST00000435506.2:c.112-48C>G
  variant of: http://identifiers.org/hgnc/28300
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7032
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ

GenotypeDepth
all individuals: 321
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 499
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1348
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2021
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 411
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5957
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 722
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6941
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 224
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11411
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3498
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24822
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2249
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3450
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8912
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1497
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4784
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

QD
type: SiteQuality
SIO_000300: 1.01e1

FS
type: SiteQuality
SIO_000300: 1.449e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.315631e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeDepth
all individuals: 14618
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 224
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 411
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2552
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 500
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 866
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 722
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4785
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3497
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3450
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1497
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11410
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24824
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8908
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2250
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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FS
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VQSLOD
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DP
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MQRankSum
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ClippingRankSum
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MQ
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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African
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Other
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European (Non-Finnish)
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FS
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QD
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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MQ
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DP
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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South Asian
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Other
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European (Non-Finnish)
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Latino
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African
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ClippingRankSum
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QD
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InbreedingCoeff
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MQ
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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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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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South Asian
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East Asian
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European (Finnish)
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European (Non-Finnish)
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African
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Other
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Latino
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VQSLOD
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ReadPosRankSum
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DP
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MQRankSum
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QD
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MQ
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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FS
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InbreedingCoeff
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BaseQRankSum
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MQ
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QD
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VQSLOD
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DP
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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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MQ
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FS
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VQSLOD
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European (Finnish)
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East Asian
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South Asian
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allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
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BaseQRankSum
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DP
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ClippingRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

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

East Asian
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Other
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num of homozygotes: 0

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

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

FS
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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DP
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InbreedingCoeff
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MQRankSum
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QD
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 8.997930475990522e-5
allele num: 66682
num of homozygotes: 0

African
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European (Finnish)
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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East Asian
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South Asian
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Latino
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African
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Other
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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DP
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QD
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VQSLOD
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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VQSLOD
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ClippingRankSum
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QD
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MQRankSum
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DP
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FS
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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African
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European (Non-Finnish)
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Latino
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East Asian
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QD
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FS
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ClippingRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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MQ
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DP
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ReadPosRankSum
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GenotypeQuality
all individuals: 11311
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
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

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

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

FS
type: SiteQuality
SIO_000300: 4.499e0

QD
type: SiteQuality
SIO_000300: 1.151e1

DP
type: SiteQuality
SIO_000300: 2.087901e6

BaseQRankSum
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SIO_000300: -1.036e0

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

GenotypeDepth
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
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variant carriers: 0

GenotypeDepth
all individuals: 2438
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5114
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1857
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.46e-1

FS
type: SiteQuality
SIO_000300: 1.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.13e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 7.41e-1

DP
type: SiteQuality
SIO_000300: 2.087491e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeDepth
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variant carriers: 17

GenotypeDepth
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GenotypeDepth
all individuals: 1019
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variant carriers: 7

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 12

GenotypeDepth
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variant carriers: 12

GenotypeDepth
all individuals: 471
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variant carriers: 224

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 11321
bin: 9.75e1
variant carriers: 328

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8471
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variant carriers: 0

GenotypeQuality
all individuals: 23554
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3437
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 291
allele frequency: 4.360334442146903e-3
allele num: 66738
num of homozygotes: 1

Latino
type: Population
allele count: 21
allele frequency: 1.813784764207981e-3
allele num: 11578
num of homozygotes: 1

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

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

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

African
type: Population
allele count: 8
allele frequency: 7.68787238131847e-4
allele num: 10406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 9
allele frequency: 1.360749924402782e-3
allele num: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.47e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.608e0

DP
type: SiteQuality
SIO_000300: 2.10141e6

QD
type: SiteQuality
SIO_000300: 1.219e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.52e-1

GenotypeDepth
all individuals: 5143
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1483
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variant carriers: 0

GenotypeDepth
all individuals: 87
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variant carriers: 0

GenotypeDepth
all individuals: 178
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

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

GenotypeQuality
all individuals: 23651
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3456
bin: 7.25e1
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GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1865
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variant carriers: 0

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

GenotypeQuality
all individuals: 11071
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 2759
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variant carriers: 0

GenotypeQuality
all individuals: 5138
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variant carriers: 0

GenotypeQuality
all individuals: 4219
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.074787e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.07e0

VQSLOD
type: SiteQuality
SIO_000300: -2.362e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.338e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.201e0

QD
type: SiteQuality
SIO_000300: 1.705e1

GenotypeDepth
all individuals: 602
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 249
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variant carriers: 4

GenotypeDepth
all individuals: 396
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variant carriers: 0

GenotypeDepth
all individuals: 759
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variant carriers: 0

GenotypeDepth
all individuals: 87
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4216
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 23662
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GenotypeQuality
all individuals: 11071
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variant carriers: 4

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 1865
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GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 3456
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2760
bin: 9.25e1
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GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 4
allele frequency: 3.844675124951942e-4
allele num: 10404
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.133e1

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

DP
type: SiteQuality
SIO_000300: 2.074878e6

InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.86e-1

FS
type: SiteQuality
SIO_000300: 5.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeDepth
all individuals: 86
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
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variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7745
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variant carriers: 0

GenotypeDepth
all individuals: 4186
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1020
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variant carriers: 0

GenotypeDepth
all individuals: 396
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variant carriers: 0

GenotypeQuality
all individuals: 23662
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.266e1

BaseQRankSum
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SIO_000300: 3.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.85e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

FS
type: SiteQuality
SIO_000300: 1.318e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.074588e6

VQSLOD
type: SiteQuality
SIO_000300: 2.75e0

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 325
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variant carriers: 2

GenotypeDepth
all individuals: 178
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GenotypeDepth
all individuals: 7745
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GenotypeDepth
all individuals: 760
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GenotypeDepth
all individuals: 10
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GenotypeQuality
all individuals: 4
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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
all individuals: 1867
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GenotypeQuality
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GenotypeQuality
all individuals: 11065
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
all individuals: 5
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GenotypeQuality
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GenotypeQuality
all individuals: 2760
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variant carriers: 0

GenotypeQuality
all individuals: 4217
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 6
allele frequency: 3.633720930232558e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.68e0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.074648e6

QD
type: SiteQuality
SIO_000300: 1.219e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeDepth
all individuals: 760
bin: 6.25e1
variant carriers: 1

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

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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num of homozygotes: 0

Other
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Latino
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allele num: 11574
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East Asian
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European (Non-Finnish)
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MQRankSum
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ClippingRankSum
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FS
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MQ
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

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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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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European (Finnish)
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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VQSLOD
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FS
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MQ
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

Latino
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East Asian
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African
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South Asian
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European (Non-Finnish)
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QD
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ClippingRankSum
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InbreedingCoeff
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DP
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MQ
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MQRankSum
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FS
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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African
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Other
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East Asian
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South Asian
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QD
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MQRankSum
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MQ
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VQSLOD
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FS
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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African
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European (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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VQSLOD
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ClippingRankSum
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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European (Non-Finnish)
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VQSLOD
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MQRankSum
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FS
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MQ
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QD
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InbreedingCoeff
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DP
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African
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East Asian
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South Asian
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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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DP
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QD
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ReadPosRankSum
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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: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66480
num of homozygotes: 0

East Asian
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allele count: 3
allele frequency: 3.473026163463765e-4
allele num: 8638
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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
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SIO_000300: 3.66e-1

QD
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DP
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

FS
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SIO_000300: 5.124e0

VQSLOD
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 1.822378811809015e-4
allele num: 16462
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.8e-1

InbreedingCoeff
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SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.51e-1

ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.656e1

FS
type: SiteQuality
SIO_000300: 1.889e0

DP
type: SiteQuality
SIO_000300: 2.045399e6

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66116
num of homozygotes: 0

South Asian
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allele num: 16428
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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

African
type: Population
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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 65960
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South Asian
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Other
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ClippingRankSum
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QD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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VQSLOD
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DP
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MQ
type: SiteQuality
SIO_000300: 5.976e1

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

South Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 65902
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Finnish)
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East Asian
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African
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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MQRankSum
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ReadPosRankSum
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DP
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QD
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FS
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InbreedingCoeff
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SIO_000300: 3.3e-3

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

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

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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Other
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South Asian
type: Population
allele count: 0
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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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European (Non-Finnish)
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allele count: 1
allele frequency: 1.522718966987453e-5
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MQ
type: SiteQuality
SIO_000300: 5.957e1