19-37837767-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37837767
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37837765
    reference: chr 19
allele count: 55
allele frequency: 2.370689655172414e-1
allele num: 232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.34-311_34-310delTT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-93-311_-93-310delTT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.34-311_34-310delTT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-353_-51-352delTT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-898_-602-897delTT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-353_34-352delTT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.503-311_503-310delTT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-93-311_-93-310delTT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-93-311_-93-310delTT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-928-311_-928-310delTT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-93-311_-93-310delTT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-93-311_-93-310delTT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-404_-403delTT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.34-9_34-8delTT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000592362
  gene symbol: HKR1
  hgvsc: ENST00000592362.1:n.569-311_569-310delTT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-898_223-897delTT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.34-311_34-310delTT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-93-311_-93-310delTT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.91-311_91-310delTT
  variant of: http://identifiers.org/hgnc/4928
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 3
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: CTT
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

19-37837767-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37837767
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37837766
    reference: chr 19
allele count: 55
allele frequency: 2.370689655172414e-1
allele num: 232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-403delT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-93-310delT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-93-310delT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-928-310delT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.34-310delT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.503-310delT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.34-310delT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.34-8delT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-897delT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-93-310delT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-897delT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000592362
  gene symbol: HKR1
  hgvsc: ENST00000592362.1:n.569-310delT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-93-310delT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.91-310delT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-352delT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-352delT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.34-310delT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-93-310delT
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-93-310delT
  variant of: http://identifiers.org/hgnc/4928
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.5e0
  variant carriers: 109
genotype quality: GenotypeQuality
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: CT
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum

19-37837767-CTTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37837767
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37837764
    reference: chr 19
allele count: 17
allele frequency: 7.327586206896551e-2
allele num: 232
alternate allele: C
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.5e0
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 2.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 7.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 3
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 4
  allele frequency: 2.5e-1
  allele num: 16
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 3
  allele frequency: 2.142857142857143e-1
  allele num: 14
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 1.515151515151515e-2
  allele num: 132
  num of homozygotes: 0
population: African
  type: Population
  allele count: 7
  allele frequency: 1.666666666666667e-1
  allele num: 42
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
reference allele: CTTT
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

19-37837767-CTTTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37837767
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37837763
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 232
alternate allele: C
canonical: false
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 14
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 132
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16
  num of homozygotes: 0
population: East Asian
population: African
population: Other
reference allele: CTTTT
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum

19-37837804-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37837804
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37837804
    reference: chr 19
allele count: 30
allele frequency: 4.065040650406504e-2
allele num: 738
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-875T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-93-288T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-93-288T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-875T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.48T>C
  hgvsp: ENST00000587437.1:c.48T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-381T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-93-288T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.34-288T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-93-288T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-93-288T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.91-288T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.34-288T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-330T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.34-288T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000592362
  gene symbol: HKR1
  hgvsc: ENST00000592362.1:n.569-288T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-330T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-93-288T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-928-288T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.503-288T>C
  variant of: http://identifiers.org/hgnc/4928
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.5e0
  variant carriers: 21
genotype quality: GenotypeQuality
hgvs: p.Val16Val
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

19-37837834-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37837834
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37837834
    reference: chr 19
allele count: 1
allele frequency: 5.574136008918618e-4
allele num: 1794
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-845C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.91-258C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-93-258C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-93-258C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.78C>T
  hgvsp: ENST00000587437.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-845C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-93-258C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.34-258C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-93-258C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.503-258C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-928-258C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.34-258C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-351C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-93-258C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000592362
  gene symbol: HKR1
  hgvsc: ENST00000592362.1:n.569-258C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.34-258C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-300C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-93-258C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-300C>T
  variant of: http://identifiers.org/hgnc/4928
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu26Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

19-37837842-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37837842
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37837842
    reference: chr 19
allele count: 1
allele frequency: 4.5004500450045e-4
allele num: 2222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-93-250C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-292C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-837C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.86C>T
  hgvsp: ENSP00000466533.1:p.Pro29Leu
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-93-250C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.503-250C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-292C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-93-250C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-837C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.34-250C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.91-250C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-93-250C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-928-250C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-343C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.34-250C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-93-250C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.34-250C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000592362
  gene symbol: HKR1
  hgvsc: ENST00000592362.1:n.569-250C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-93-250C>T
  variant of: http://identifiers.org/hgnc/4928
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro29Leu
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

19-37837869-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37837869
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37837869
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 3588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-265G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.113G>A
  hgvsp: ENSP00000466533.1:p.Arg38His
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.34-223G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-93-223G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-93-223G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.34-223G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-928-223G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.34-223G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-810G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-810G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-93-223G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-316G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000592362
  gene symbol: HKR1
  hgvsc: ENST00000592362.1:n.569-223G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-265G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.503-223G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.91-223G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-93-223G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-93-223G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-93-223G>A
  variant of: http://identifiers.org/hgnc/4928
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg38His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

19-37837881-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37837881
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37837881
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 4478
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-93-211G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.34-211G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.34-211G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-304G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.503-211G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-93-211G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-798G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.34-211G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-798G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-93-211G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.125G>A
  hgvsp: ENST00000587437.1:c.125G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.91-211G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-93-211G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-93-211G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-253G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-928-211G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-253G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-93-211G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000592362
  gene symbol: HKR1
  hgvsc: ENST00000592362.1:n.569-211G>A
  variant of: http://identifiers.org/hgnc/4928
canonical: false
consequence: stop retained
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ter42Ter
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

19-37837893-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37837893
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37837893
    reference: chr 19
allele count: 1
allele frequency: 1.812907904278463e-4
allele num: 5516
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-786A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-241A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000592362
  gene symbol: HKR1
  hgvsc: ENST00000592362.1:n.569-199A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-292A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-93-199A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.34-199A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-786A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*11A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-928-199A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.91-199A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.34-199A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-93-199A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-93-199A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-93-199A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-241A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-93-199A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.34-199A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.503-199A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-93-199A>G
  variant of: http://identifiers.org/hgnc/4928
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD

19-37837894-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37837894
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37837894
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 5616
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.503-198T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-93-198T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-928-198T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-93-198T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.34-198T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.34-198T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-240T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000592362
  gene symbol: HKR1
  hgvsc: ENST00000592362.1:n.569-198T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-93-198T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.91-198T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-785T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-291T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-785T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.34-198T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*12T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-93-198T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-240T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-93-198T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-93-198T>C
  variant of: http://identifiers.org/hgnc/4928
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-37837902-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37837902
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37837902
    reference: chr 19
allele count: 1
allele frequency: 1.447178002894356e-4
allele num: 6910
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.34-190A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-93-190A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-777A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000592362
  gene symbol: HKR1
  hgvsc: ENST00000592362.1:n.569-190A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-928-190A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-283A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.34-190A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.91-190A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.34-190A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-93-190A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*20A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-232A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.503-190A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-93-190A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-232A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-93-190A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-777A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-93-190A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-93-190A>G
  variant of: http://identifiers.org/hgnc/4928
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35422
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

19-37837903-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37837903
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37837903
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 7158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-93-189G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.34-189G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-93-189G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-776G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-231G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-93-189G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-776G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.503-189G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-928-189G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*21G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.34-189G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-282G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.91-189G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.34-189G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-93-189G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-93-189G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-231G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000592362
  gene symbol: HKR1
  hgvsc: ENST00000592362.1:n.569-189G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-93-189G>A
  variant of: http://identifiers.org/hgnc/4928
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16107
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

19-37837907-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37837907
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37837907
    reference: chr 19
allele count: 2
allele frequency: 2.524614996213078e-4
allele num: 7922
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.34-185C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-772C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-93-185C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.503-185C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.34-185C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-772C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-928-185C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-278C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.34-185C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-93-185C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-93-185C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-93-185C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-93-185C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-227C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.91-185C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-93-185C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*25C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000592362
  gene symbol: HKR1
  hgvsc: ENST00000592362.1:n.569-185C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-227C>T
  variant of: http://identifiers.org/hgnc/4928
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32488
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

19-37837908-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37837908
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37837908
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 9032
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.503-184G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-93-184G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-771G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-226G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-928-184G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000592362
  gene symbol: HKR1
  hgvsc: ENST00000592362.1:n.569-184G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.91-184G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-93-184G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-277G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-93-184G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-93-184G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-771G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-93-184G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.34-184G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*26G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-226G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.34-184G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-93-184G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.34-184G>A
  variant of: http://identifiers.org/hgnc/4928
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21128
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

19-37837910-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37837910
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37837910
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 9810
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-93-182G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-93-182G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.34-182G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-224G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.34-182G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.91-182G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.503-182G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-769G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-769G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000592362
  gene symbol: HKR1
  hgvsc: ENST00000592362.1:n.569-182G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-928-182G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-224G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-275G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*28G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-93-182G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-93-182G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.34-182G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-93-182G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-93-182G>A
  variant of: http://identifiers.org/hgnc/4928
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22449
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum

19-37837911-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37837911
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37837911
    reference: chr 19
allele count: 5
allele frequency: 4.919323101141283e-4
allele num: 10164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-93-181G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-768G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-93-181G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-93-181G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-928-181G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-223G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-274G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-93-181G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.91-181G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.34-181G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*29G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-768G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.34-181G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-93-181G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.503-181G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000592362
  gene symbol: HKR1
  hgvsc: ENST00000592362.1:n.569-181G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-93-181G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-223G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.34-181G>T
  variant of: http://identifiers.org/hgnc/4928
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP

19-37838043-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838043
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838043
    reference: chr 19
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-93-49G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-636G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*73-49G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.34-49G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.34-49G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-91G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-91G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-93-49G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-93-49G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-142G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.91-49G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000592362
  gene symbol: HKR1
  hgvsc: ENST00000592362.1:n.569-49G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.34-49G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-93-49G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-636G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-93-49G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-93-49G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.503-49G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-928-49G>A
  variant of: http://identifiers.org/hgnc/4928
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  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 quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

19-37838043-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838043
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838043
    reference: chr 19
allele count: 2
allele frequency: 1.647880825258717e-5
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000592362
  gene symbol: HKR1
  hgvsc: ENST00000592362.1:n.569-49G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*73-49G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.503-49G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-142G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-93-49G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-93-49G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.34-49G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-93-49G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.91-49G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-93-49G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-636G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-636G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-93-49G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.34-49G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.34-49G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-91G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-928-49G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-91G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-93-49G>C
  variant of: http://identifiers.org/hgnc/4928
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9654
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

19-37838048-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838048
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838048
    reference: chr 19
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-93-44A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-93-44A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000592362
  gene symbol: HKR1
  hgvsc: ENST00000592362.1:n.569-44A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-86A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-631A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.34-44A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.34-44A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.503-44A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*73-44A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-93-44A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-137A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-631A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.34-44A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.91-44A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-93-44A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-93-44A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-928-44A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-86A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-93-44A>G
  variant of: http://identifiers.org/hgnc/4928
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

19-37838050-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838050
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838050
    reference: chr 19
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*73-42A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-135A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-93-42A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-93-42A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-93-42A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-84A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-93-42A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.34-42A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.34-42A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-629A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.503-42A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.91-42A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.34-42A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-629A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-93-42A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-928-42A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-84A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-93-42A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000592362
  gene symbol: HKR1
  hgvsc: ENST00000592362.1:n.569-42A>G
  variant of: http://identifiers.org/hgnc/4928
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

19-37838059-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838059
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838059
    reference: chr 19
allele count: 3
allele frequency: 2.471821237888076e-5
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-928-33C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-620C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-93-33C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000592362
  gene symbol: HKR1
  hgvsc: ENST00000592362.1:n.569-33C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-93-33C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.34-33C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-93-33C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-75C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-93-33C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-126C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.34-33C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-75C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*73-33C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.34-33C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-93-33C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.503-33C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.91-33C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-620C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-93-33C>T
  variant of: http://identifiers.org/hgnc/4928
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-37838074-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838074
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838074
    reference: chr 19
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.34-18G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-93-18G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-605G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-928-18G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.91-18G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*73-18G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000592362
  gene symbol: HKR1
  hgvsc: ENST00000592362.1:n.569-18G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-93-18G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-93-18G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-605G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-93-18G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.34-18G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-60G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.34-18G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-93-18G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-111G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.503-18G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-60G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-93-18G>T
  variant of: http://identifiers.org/hgnc/4928
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

19-37838093-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838093
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838093
    reference: chr 19
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-41C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*74C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-92C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-92C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-92C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-586C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-92C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-92C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.92C>T
  hgvsp: ENSP00000315505.3:p.Ala31Val
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.504C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.35C>T
  hgvsp: ENSP00000375994.3:p.Ala12Val
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.35C>T
  hgvsp: ENSP00000466472.1:p.Ala12Val
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-92C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.35C>T
  hgvsp: ENSP00000467562.1:p.Ala12Val
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-41C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-927C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-92C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.-92C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000592362
  gene symbol: HKR1
  hgvsc: ENST00000592362.1:n.570C>T
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala31Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

19-37838094-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838094
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838094
    reference: chr 19
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-91G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-91G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-91G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*75G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.36G>A
  hgvsp: ENST00000589392.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-91G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-91G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.-91G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.36G>A
  hgvsp: ENST00000591259.1:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-585G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-926G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000592362
  gene symbol: HKR1
  hgvsc: ENST00000592362.1:n.571G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.505G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.93G>A
  hgvsp: ENST00000324411.4:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-91G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.36G>A
  hgvsp: ENST00000392153.3:c.36G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-585G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-40G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-40G>A
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.93G>A
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/19-37838097-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838097
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838097
    reference: chr 19
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.39C>A
  hgvsp: ENSP00000375994.3:p.Phe13Leu
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-88C>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000592362
  gene symbol: HKR1
  hgvsc: ENST00000592362.1:n.574C>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.508C>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-88C>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-88C>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*78C>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-88C>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.39C>A
  hgvsp: ENSP00000466472.1:p.Phe13Leu
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.96C>A
  hgvsp: ENSP00000315505.3:p.Phe32Leu
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-582C>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.39C>A
  hgvsp: ENSP00000467562.1:p.Phe13Leu
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-88C>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-37C>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-88C>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-923C>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-582C>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.-88C>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-37C>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-88C>A
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe32Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

19-37838097-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838097
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838097
    reference: chr 19
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-88C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.39C>G
  hgvsp: ENSP00000466472.1:p.Phe13Leu
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-88C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.-88C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.508C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-88C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.39C>G
  hgvsp: ENSP00000467562.1:p.Phe13Leu
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.96C>G
  hgvsp: ENSP00000315505.3:p.Phe32Leu
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*78C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000592362
  gene symbol: HKR1
  hgvsc: ENST00000592362.1:n.574C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.39C>G
  hgvsp: ENSP00000375994.3:p.Phe13Leu
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-88C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-923C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-88C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-582C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-37C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-37C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-88C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-88C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-582C>G
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe32Leu
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

19-37838098-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838098
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838098
    reference: chr 19
allele count: 5
allele frequency: 4.118751853438334e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.40G>A
  hgvsp: ENSP00000466472.1:p.Val14Met
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-87G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-87G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-87G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-87G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.40G>A
  hgvsp: ENSP00000467562.1:p.Val14Met
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.40G>A
  hgvsp: ENSP00000375994.3:p.Val14Met
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.97G>A
  hgvsp: ENSP00000315505.3:p.Val33Met
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-922G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-581G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-581G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000592362
  gene symbol: HKR1
  hgvsc: ENST00000592362.1:n.575G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-87G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-36G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.509G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-87G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.-87G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*79G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-87G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-36G>A
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val33Met
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

19-37838109-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838109
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838109
    reference: chr 19
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.51G>C
  hgvsp: ENSP00000466472.1:p.Arg17Ser
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.108G>C
  hgvsp: ENSP00000315505.3:p.Arg36Ser
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-570G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-76G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.-76G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.520G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-25G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-76G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-76G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-76G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-76G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.51G>C
  hgvsp: ENSP00000375994.3:p.Arg17Ser
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*90G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-76G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-76G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.51G>C
  hgvsp: ENSP00000467562.1:p.Arg17Ser
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-25G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-570G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-911G>C
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg36Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-37838116-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838116
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838116
    reference: chr 19
allele count: 14
allele frequency: 1.153326523214815e-4
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-69G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-563G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-69G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.58G>A
  hgvsp: ENSP00000466472.1:p.Ala20Thr
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-69G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.58G>A
  hgvsp: ENSP00000375994.3:p.Ala20Thr
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-18G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-904G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.527G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-18G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.115G>A
  hgvsp: ENSP00000315505.3:p.Ala39Thr
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-69G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-69G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.58G>A
  hgvsp: ENSP00000467562.1:p.Ala20Thr
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-69G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-69G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-563G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*97G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.-69G>A
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala39Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

19-37838117-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838117
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838117
    reference: chr 19
allele count: 3
allele frequency: 2.471413978317461e-5
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-68C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.59C>G
  hgvsp: ENSP00000375994.3:p.Ala20Gly
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-903C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-562C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-68C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.-68C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.116C>G
  hgvsp: ENSP00000315505.3:p.Ala39Gly
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*98C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-68C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-17C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-68C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.59C>G
  hgvsp: ENSP00000467562.1:p.Ala20Gly
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.528C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.59C>G
  hgvsp: ENSP00000466472.1:p.Ala20Gly
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-68C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-562C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-17C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-68C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-68C>G
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala39Gly
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-37838122-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838122
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838122
    reference: chr 19
allele count: 1008
allele frequency: 8.304087786070882e-3
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-63T>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-63T>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.64T>G
  hgvsp: ENSP00000466472.1:p.Tyr22Asp
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-12T>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-557T>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.64T>G
  hgvsp: ENSP00000375994.3:p.Tyr22Asp
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-63T>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.121T>G
  hgvsp: ENSP00000315505.3:p.Tyr41Asp
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-63T>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-63T>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.-63T>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.64T>G
  hgvsp: ENSP00000467562.1:p.Tyr22Asp
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-63T>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-898T>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-557T>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.533T>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-12T>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-63T>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*103T>G
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Tyr41Asp
num of homozygotes: 58
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD

19-37838124-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838124
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838124
    reference: chr 19
allele count: 61
allele frequency: 5.025291219745275e-4
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-555C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-61C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.-61C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.123C>T
  hgvsp: ENST00000324411.4:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.66C>T
  hgvsp: ENST00000392153.3:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-10C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-61C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-61C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.66C>T
  hgvsp: ENST00000589392.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-61C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-896C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*105C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.66C>T
  hgvsp: ENST00000591259.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-10C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.535C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-61C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-61C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-555C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-61C>T
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10060
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr41Tyr
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS

19-37838129-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838129
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838129
    reference: chr 19
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.71C>G
  hgvsp: ENSP00000375994.3:p.Thr24Ser
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-56C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-56C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.128C>G
  hgvsp: ENSP00000315505.3:p.Thr43Ser
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-56C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-550C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-550C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.-56C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.540C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.71C>G
  hgvsp: ENSP00000466472.1:p.Thr24Ser
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-5C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.71C>G
  hgvsp: ENSP00000467562.1:p.Thr24Ser
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-5C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-891C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-56C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-56C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-56C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-56C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*110C>G
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr43Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

19-37838130-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838130
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838130
    reference: chr 19
allele count: 6
allele frequency: 4.942909396470763e-5
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-4C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-55C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-549C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.72C>G
  hgvsp: ENST00000591259.1:c.72C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.129C>G
  hgvsp: ENST00000324411.4:c.129C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-55C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*111C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.541C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-55C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-55C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.72C>G
  hgvsp: ENST00000589392.1:c.72C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.72C>G
  hgvsp: ENST00000392153.3:c.72C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-4C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-55C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-890C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-55C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-549C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-55C>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.-55C>G
  variant of: http://identifiers.org/hgnc/4928
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.34-4C>G
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-37838133-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838133
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838133
    reference: chr 19
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.75G>T
  hgvsp: ENSP00000375994.3:p.Gln25His
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-52G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.75G>T
  hgvsp: ENSP00000467562.1:p.Gln25His
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-52G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-52G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-51-1G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-887G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-52G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.-52G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.132G>T
  hgvsp: ENSP00000315505.3:p.Gln44His
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.34-1G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-52G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.544G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*114G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-52G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-546G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-546G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-52G>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.75G>T
  hgvsp: ENSP00000466472.1:p.Gln25His
  variant of: http://identifiers.org/hgnc/4928
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.34-1G>T
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

19-37838137-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838137
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838137
    reference: chr 19
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.79G>C
  hgvsp: ENSP00000375994.3:p.Glu27Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.37G>C
  hgvsp: ENSP00000468176.1:p.Glu13Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.79G>C
  hgvsp: ENSP00000467562.1:p.Glu27Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-48G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.79G>C
  hgvsp: ENSP00000466472.1:p.Glu27Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-48G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.-48G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.136G>C
  hgvsp: ENSP00000315505.3:p.Glu46Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-48G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-48G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-542G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-48G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-48G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-883G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*118G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-542G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-48G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-48G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.548G>C
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10061
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu46Gln
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

19-37838141-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838141
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838141
    reference: chr 19
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.41G>A
  hgvsp: ENSP00000468176.1:p.Trp14Ter
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.83G>A
  hgvsp: ENSP00000466472.1:p.Trp28Ter
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000587829
  gene symbol: HKR1
  hgvsc: ENST00000587829.1:n.552G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*122G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-44G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.-44G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-879G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-538G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.83G>A
  hgvsp: ENSP00000375994.3:p.Trp28Ter
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-44G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.83G>A
  hgvsp: ENSP00000467562.1:p.Trp28Ter
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.140G>A
  hgvsp: ENSP00000315505.3:p.Trp47Ter
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-44G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-44G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-44G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-44G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-538G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-44G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-44G>A
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7910
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp47Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

19-37838173-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838173
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838173
    reference: chr 19
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.172C>T
  hgvsp: ENSP00000315505.3:p.His58Tyr
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-12C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-12C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-12C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.115C>T
  hgvsp: ENSP00000466472.1:p.His39Tyr
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-12C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-12C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.73C>T
  hgvsp: ENSP00000468176.1:p.His25Tyr
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*154C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.115C>T
  hgvsp: ENSP00000375994.3:p.His39Tyr
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.-12C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-12C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-12C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-506C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.115C>T
  hgvsp: ENSP00000467562.1:p.His39Tyr
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-12C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-847C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-506C>T
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His58Tyr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

19-37838176-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838176
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838176
    reference: chr 19
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-9A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.118A>G
  hgvsp: ENSP00000375994.3:p.Arg40Gly
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.175A>G
  hgvsp: ENSP00000315505.3:p.Arg59Gly
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.-9A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.118A>G
  hgvsp: ENSP00000467562.1:p.Arg40Gly
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*157A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-9A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-9A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.76A>G
  hgvsp: ENSP00000468176.1:p.Arg26Gly
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-844A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-9A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-9A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.118A>G
  hgvsp: ENSP00000466472.1:p.Arg40Gly
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-9A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-9A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-503A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-503A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-9A>G
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg59Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

19-37838177-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838177
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838177
    reference: chr 19
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-843G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-8G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-8G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-8G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-8G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.176G>A
  hgvsp: ENSP00000315505.3:p.Arg59Lys
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-502G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.119G>A
  hgvsp: ENSP00000375994.3:p.Arg40Lys
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.-8G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-8G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.119G>A
  hgvsp: ENSP00000466472.1:p.Arg40Lys
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-502G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-8G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-8G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.119G>A
  hgvsp: ENSP00000467562.1:p.Arg40Lys
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*158G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-8G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.77G>A
  hgvsp: ENSP00000468176.1:p.Arg26Lys
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg59Lys
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

19-37838179-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838179
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838179
    reference: chr 19
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.178G>A
  hgvsp: ENSP00000315505.3:p.Glu60Lys
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-6G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-6G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-500G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*160G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-841G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-6G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.121G>A
  hgvsp: ENSP00000467562.1:p.Glu41Lys
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-6G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-6G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.-6G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-6G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-6G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.121G>A
  hgvsp: ENSP00000466472.1:p.Glu41Lys
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.79G>A
  hgvsp: ENSP00000468176.1:p.Glu27Lys
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-6G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-500G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.121G>A
  hgvsp: ENSP00000375994.3:p.Glu41Lys
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu60Lys
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

19-37838181-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838181
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838181
    reference: chr 19
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.-4G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.-4G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.123G>A
  hgvsp: ENST00000591259.1:c.123G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.-4G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-498G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*162G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.-4G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.123G>A
  hgvsp: ENST00000392153.3:c.123G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.123G>A
  hgvsp: ENST00000589392.1:c.123G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.-4G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.-4G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.-4G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.180G>A
  hgvsp: ENST00000324411.4:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.-4G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.-4G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-498G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-839G>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.81G>A
  hgvsp: ENST00000591391.1:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu60Glu
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

19-37838189-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838189
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838189
    reference: chr 19
allele count: 4
allele frequency: 3.30895734753979e-5
allele num: 120884
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.5T>A
  hgvsp: ENSP00000465899.1:p.Leu2Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.188T>A
  hgvsp: ENSP00000315505.3:p.Leu63Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.5T>A
  hgvsp: ENSP00000438261.1:p.Leu2Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.5T>A
  hgvsp: ENSP00000466856.1:p.Leu2Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*170T>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.5T>A
  hgvsp: ENSP00000466360.1:p.Leu2Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.131T>A
  hgvsp: ENSP00000467562.1:p.Leu44Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.131T>A
  hgvsp: ENSP00000375994.3:p.Leu44Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-831T>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.5T>A
  hgvsp: ENSP00000465884.1:p.Leu2Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.5T>A
  hgvsp: ENSP00000465862.1:p.Leu2Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.5T>A
  hgvsp: ENSP00000467822.1:p.Leu2Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.89T>A
  hgvsp: ENSP00000468176.1:p.Leu30Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.5T>A
  hgvsp: ENSP00000465297.1:p.Leu2Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-490T>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-490T>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.5T>A
  hgvsp: ENSP00000468572.1:p.Leu2Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.131T>A
  hgvsp: ENSP00000466472.1:p.Leu44Gln
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9765
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu63Gln
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

19-37838196-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838196
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838196
    reference: chr 19
allele count: 1
allele frequency: 8.293111741387604e-6
allele num: 120582
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.12T>G
  hgvsp: ENST00000590166.1:c.12T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-483T>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.12T>G
  hgvsp: ENST00000589188.1:c.12T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.12T>G
  hgvsp: ENST00000592168.1:c.12T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.12T>G
  hgvsp: ENST00000592768.1:c.12T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-824T>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.138T>G
  hgvsp: ENST00000591259.1:c.138T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.12T>G
  hgvsp: ENST00000591417.1:c.12T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*177T>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.12T>G
  hgvsp: ENST00000541583.2:c.12T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.138T>G
  hgvsp: ENST00000589392.1:c.138T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.12T>G
  hgvsp: ENST00000591134.1:c.12T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.195T>G
  hgvsp: ENST00000324411.4:c.195T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.12T>G
  hgvsp: ENST00000586897.1:c.12T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.138T>G
  hgvsp: ENST00000392153.3:c.138T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-483T>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.96T>G
  hgvsp: ENST00000591391.1:c.96T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.12T>G
  hgvsp: ENST00000585623.1:c.12T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr65Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

19-37838197-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838197
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838197
    reference: chr 19
allele count: 1
allele frequency: 8.298892927683448e-6
allele num: 120498
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-482T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.13T>C
  hgvsp: ENSP00000466856.1:p.Tyr5His
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.13T>C
  hgvsp: ENSP00000467822.1:p.Tyr5His
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.13T>C
  hgvsp: ENSP00000465862.1:p.Tyr5His
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.13T>C
  hgvsp: ENSP00000465884.1:p.Tyr5His
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*178T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.13T>C
  hgvsp: ENSP00000465297.1:p.Tyr5His
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.139T>C
  hgvsp: ENSP00000375994.3:p.Tyr47His
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.196T>C
  hgvsp: ENSP00000315505.3:p.Tyr66His
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.97T>C
  hgvsp: ENSP00000468176.1:p.Tyr33His
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.13T>C
  hgvsp: ENSP00000465899.1:p.Tyr5His
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-823T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.139T>C
  hgvsp: ENSP00000466472.1:p.Tyr47His
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.13T>C
  hgvsp: ENSP00000438261.1:p.Tyr5His
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-482T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.13T>C
  hgvsp: ENSP00000466360.1:p.Tyr5His
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.139T>C
  hgvsp: ENSP00000467562.1:p.Tyr47His
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.13T>C
  hgvsp: ENSP00000468572.1:p.Tyr5His
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr66His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

19-37838197-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838197
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838197
    reference: chr 19
allele count: 11
allele frequency: 9.128782220451791e-5
allele num: 120498
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.13T>G
  hgvsp: ENSP00000468572.1:p.Tyr5Asp
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-823T>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.13T>G
  hgvsp: ENSP00000438261.1:p.Tyr5Asp
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.13T>G
  hgvsp: ENSP00000467822.1:p.Tyr5Asp
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.97T>G
  hgvsp: ENSP00000468176.1:p.Tyr33Asp
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*178T>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.13T>G
  hgvsp: ENSP00000466856.1:p.Tyr5Asp
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.139T>G
  hgvsp: ENSP00000466472.1:p.Tyr47Asp
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.13T>G
  hgvsp: ENSP00000465884.1:p.Tyr5Asp
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.13T>G
  hgvsp: ENSP00000465297.1:p.Tyr5Asp
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.139T>G
  hgvsp: ENSP00000467562.1:p.Tyr47Asp
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.13T>G
  hgvsp: ENSP00000465899.1:p.Tyr5Asp
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.13T>G
  hgvsp: ENSP00000465862.1:p.Tyr5Asp
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-482T>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-482T>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.139T>G
  hgvsp: ENSP00000375994.3:p.Tyr47Asp
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.196T>G
  hgvsp: ENSP00000315505.3:p.Tyr66Asp
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.13T>G
  hgvsp: ENSP00000466360.1:p.Tyr5Asp
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7882
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr66Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

19-37838199-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838199
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838199
    reference: chr 19
allele count: 1
allele frequency: 8.304130474498016e-6
allele num: 120422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-821T>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.15T>A
  hgvsp: ENSP00000468572.1:p.Tyr5Ter
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.15T>A
  hgvsp: ENSP00000465899.1:p.Tyr5Ter
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*180T>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.15T>A
  hgvsp: ENSP00000438261.1:p.Tyr5Ter
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.141T>A
  hgvsp: ENSP00000467562.1:p.Tyr47Ter
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.99T>A
  hgvsp: ENSP00000468176.1:p.Tyr33Ter
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.15T>A
  hgvsp: ENSP00000465884.1:p.Tyr5Ter
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.15T>A
  hgvsp: ENSP00000465297.1:p.Tyr5Ter
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.141T>A
  hgvsp: ENSP00000375994.3:p.Tyr47Ter
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.15T>A
  hgvsp: ENSP00000466856.1:p.Tyr5Ter
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.141T>A
  hgvsp: ENSP00000466472.1:p.Tyr47Ter
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-480T>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.15T>A
  hgvsp: ENSP00000465862.1:p.Tyr5Ter
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-480T>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.15T>A
  hgvsp: ENSP00000467822.1:p.Tyr5Ter
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.198T>A
  hgvsp: ENSP00000315505.3:p.Tyr66Ter
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.15T>A
  hgvsp: ENSP00000466360.1:p.Tyr5Ter
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr66Ter
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-37838199-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838199
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838199
    reference: chr 19
allele count: 14
allele frequency: 1.162578266429722e-4
allele num: 120422
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.141T>C
  hgvsp: ENST00000591259.1:c.141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.15T>C
  hgvsp: ENST00000585623.1:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.15T>C
  hgvsp: ENST00000589188.1:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.15T>C
  hgvsp: ENST00000591134.1:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.141T>C
  hgvsp: ENST00000392153.3:c.141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-821T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.15T>C
  hgvsp: ENST00000586897.1:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.15T>C
  hgvsp: ENST00000541583.2:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.99T>C
  hgvsp: ENST00000591391.1:c.99T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.15T>C
  hgvsp: ENST00000591417.1:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.198T>C
  hgvsp: ENST00000324411.4:c.198T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.15T>C
  hgvsp: ENST00000592768.1:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-480T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.15T>C
  hgvsp: ENST00000590166.1:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*180T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-480T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.141T>C
  hgvsp: ENST00000589392.1:c.141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.15T>C
  hgvsp: ENST00000592168.1:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr66Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

19-37838204-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838204
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838204
    reference: chr 19
allele count: 2
allele frequency: 1.666750004166875e-5
allele num: 119994
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.203A>G
  hgvsp: ENSP00000315505.3:p.His68Arg
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.146A>G
  hgvsp: ENSP00000467562.1:p.His49Arg
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.20A>G
  hgvsp: ENSP00000466360.1:p.His7Arg
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.20A>G
  hgvsp: ENSP00000438261.1:p.His7Arg
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.104A>G
  hgvsp: ENSP00000468176.1:p.His35Arg
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.20A>G
  hgvsp: ENSP00000466856.1:p.His7Arg
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.146A>G
  hgvsp: ENSP00000466472.1:p.His49Arg
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-475A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.20A>G
  hgvsp: ENSP00000467822.1:p.His7Arg
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.20A>G
  hgvsp: ENSP00000465862.1:p.His7Arg
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*185A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.20A>G
  hgvsp: ENSP00000465297.1:p.His7Arg
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.20A>G
  hgvsp: ENSP00000465899.1:p.His7Arg
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-816A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.20A>G
  hgvsp: ENSP00000468572.1:p.His7Arg
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-475A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.20A>G
  hgvsp: ENSP00000465884.1:p.His7Arg
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.146A>G
  hgvsp: ENSP00000375994.3:p.His49Arg
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.His68Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

19-37838205-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838205
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838205
    reference: chr 19
allele count: 1
allele frequency: 8.334583520861462e-6
allele num: 119982
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.147T>G
  hgvsp: ENSP00000466472.1:p.His49Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.21T>G
  hgvsp: ENSP00000466856.1:p.His7Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-815T>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.21T>G
  hgvsp: ENSP00000468572.1:p.His7Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.21T>G
  hgvsp: ENSP00000465862.1:p.His7Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.147T>G
  hgvsp: ENSP00000375994.3:p.His49Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.21T>G
  hgvsp: ENSP00000438261.1:p.His7Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.204T>G
  hgvsp: ENSP00000315505.3:p.His68Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.21T>G
  hgvsp: ENSP00000465297.1:p.His7Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.21T>G
  hgvsp: ENSP00000465899.1:p.His7Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-474T>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.21T>G
  hgvsp: ENSP00000466360.1:p.His7Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.147T>G
  hgvsp: ENSP00000467562.1:p.His49Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.21T>G
  hgvsp: ENSP00000467822.1:p.His7Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-474T>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.21T>G
  hgvsp: ENSP00000465884.1:p.His7Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.105T>G
  hgvsp: ENSP00000468176.1:p.His35Gln
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*186T>G
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9028
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His68Gln
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

19-37838206-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838206
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838206
    reference: chr 19
allele count: 2
allele frequency: 1.671486118307788e-5
allele num: 119654
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.22C>T
  hgvsp: ENST00000592768.1:c.22C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.148C>T
  hgvsp: ENST00000392153.3:c.148C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.106C>T
  hgvsp: ENST00000591391.1:c.106C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.148C>T
  hgvsp: ENST00000591259.1:c.148C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.22C>T
  hgvsp: ENST00000589188.1:c.22C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.22C>T
  hgvsp: ENST00000591417.1:c.22C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.148C>T
  hgvsp: ENST00000589392.1:c.148C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.22C>T
  hgvsp: ENST00000586897.1:c.22C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*187C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.22C>T
  hgvsp: ENST00000591134.1:c.22C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.22C>T
  hgvsp: ENST00000592168.1:c.22C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.22C>T
  hgvsp: ENST00000541583.2:c.22C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-473C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-814C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.205C>T
  hgvsp: ENST00000324411.4:c.205C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-473C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.22C>T
  hgvsp: ENST00000585623.1:c.22C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.22C>T
  hgvsp: ENST00000590166.1:c.22C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu69Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-37838211-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838211
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838211
    reference: chr 19
allele count: 1008
allele frequency: 8.437970868910096e-3
allele num: 119460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.27C>T
  hgvsp: ENST00000592768.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.27C>T
  hgvsp: ENST00000586897.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.153C>T
  hgvsp: ENST00000392153.3:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-468C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.27C>T
  hgvsp: ENST00000591134.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.27C>T
  hgvsp: ENST00000589188.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.153C>T
  hgvsp: ENST00000591259.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.27C>T
  hgvsp: ENST00000591417.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-809C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.27C>T
  hgvsp: ENST00000541583.2:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.27C>T
  hgvsp: ENST00000592168.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.111C>T
  hgvsp: ENST00000591391.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*192C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-468C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.27C>T
  hgvsp: ENST00000590166.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.27C>T
  hgvsp: ENST00000585623.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.210C>T
  hgvsp: ENST00000324411.4:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.153C>T
  hgvsp: ENST00000589392.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 6.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 9469
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Val70Val
num of homozygotes: 58
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-37838215-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838215
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838215
    reference: chr 19
allele count: 1
allele frequency: 8.398844319021702e-6
allele num: 119064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.31C>A
  hgvsp: ENSP00000438261.1:p.Leu11Met
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-805C>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.31C>A
  hgvsp: ENSP00000465884.1:p.Leu11Met
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*196C>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.31C>A
  hgvsp: ENSP00000467822.1:p.Leu11Met
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.157C>A
  hgvsp: ENSP00000375994.3:p.Leu53Met
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.31C>A
  hgvsp: ENSP00000466856.1:p.Leu11Met
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.31C>A
  hgvsp: ENSP00000465862.1:p.Leu11Met
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.157C>A
  hgvsp: ENSP00000466472.1:p.Leu53Met
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.157C>A
  hgvsp: ENSP00000467562.1:p.Leu53Met
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.31C>A
  hgvsp: ENSP00000468572.1:p.Leu11Met
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.31C>A
  hgvsp: ENSP00000465899.1:p.Leu11Met
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.31C>A
  hgvsp: ENSP00000465297.1:p.Leu11Met
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-464C>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.115C>A
  hgvsp: ENSP00000468176.1:p.Leu39Met
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.214C>A
  hgvsp: ENSP00000315505.3:p.Leu72Met
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-464C>A
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.31C>A
  hgvsp: ENSP00000466360.1:p.Leu11Met
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8481
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu72Met
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

19-37838221-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838221
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838221
    reference: chr 19
allele count: 1
allele frequency: 8.424174009738345e-6
allele num: 118706
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*199+3A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.160+3A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.34+3A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.34+3A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.34+3A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.34+3A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-458A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.160+3A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-802+3A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.34+3A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.34+3A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.34+3A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.34+3A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.160+3A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.118+3A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.217+3A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-458A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.34+3A>G
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9571
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.217+3A>G
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

19-37838228-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838228
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838228
    reference: chr 19
allele count: 1
allele frequency: 8.475007203756124e-6
allele num: 117994
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-451G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.160+10G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-802+10G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-451G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.34+10G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.34+10G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.34+10G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*199+10G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.34+10G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.118+10G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.34+10G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.34+10G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.217+10G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.160+10G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.160+10G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.34+10G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.34+10G>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.34+10G>C
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7607
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-37838250-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838250
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838250
    reference: chr 19
allele count: 6
allele frequency: 5.169027189083014e-5
allele num: 116076
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.217+32T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.34+32T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.160+32T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.34+32T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-802+32T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-429T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.160+32T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.34+32T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.118+32T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*199+32T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-429T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.34+32T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.34+32T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.34+32T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.160+32T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.34+32T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.34+32T>C
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.34+32T>C
  variant of: http://identifiers.org/hgnc/4928
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

19-37838630-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838630
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838630
    reference: chr 19
allele count: 1
allele frequency: 8.790899660671274e-6
allele num: 113754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-49C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.35-49C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.218-49C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000590570
  gene symbol: HKR1
  hgvsc: ENST00000590570.1:n.166C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.161-49C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.35-49C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.35-49C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*200-49C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.35-49C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-801-49C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.161-49C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.35-49C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.35-49C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.35-49C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.35-49C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.35-49C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.119-49C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-49C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.161-49C>T
  variant of: http://identifiers.org/hgnc/4928
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14532
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-37838638-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838638
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838638
    reference: chr 19
allele count: 1
allele frequency: 8.763781045694355e-6
allele num: 114106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-41C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.35-41C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.35-41C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.35-41C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.35-41C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000590570
  gene symbol: HKR1
  hgvsc: ENST00000590570.1:n.174C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.35-41C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-41C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.161-41C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.161-41C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.35-41C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.119-41C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.218-41C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-801-41C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.161-41C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.35-41C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.35-41C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*200-41C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.35-41C>T
  variant of: http://identifiers.org/hgnc/4928
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum

19-37838639-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838639
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838639
    reference: chr 19
allele count: 1
allele frequency: 8.748753302654372e-6
allele num: 114302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000590570
  gene symbol: HKR1
  hgvsc: ENST00000590570.1:n.175C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.35-40C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.35-40C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-40C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.218-40C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.161-40C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.161-40C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.35-40C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*200-40C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.35-40C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.119-40C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.161-40C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-40C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.35-40C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.35-40C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-801-40C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.35-40C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.35-40C>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.35-40C>T
  variant of: http://identifiers.org/hgnc/4928
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21497
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

19-37838647-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838647
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838647
    reference: chr 19
allele count: 2
allele frequency: 1.73331253358293e-5
allele num: 115386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.35-32A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.161-32A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-801-32A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.35-32A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.35-32A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.161-32A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.35-32A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.161-32A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000590570
  gene symbol: HKR1
  hgvsc: ENST00000590570.1:n.183A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.35-32A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.35-32A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.35-32A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-32A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.35-32A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-32A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.119-32A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.218-32A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.35-32A>G
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*200-32A>G
  variant of: http://identifiers.org/hgnc/4928
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

19-37838651-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37838651
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 37838651
    reference: chr 19
allele count: 1
allele frequency: 8.617718028266114e-6
allele num: 116040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467822
  ensembl transcript: ENST00000592168
  gene symbol: HKR1
  hgvsc: ENST00000592168.1:c.35-28A>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466498
  ensembl transcript: ENST00000590582
  gene symbol: HKR1
  hgvsc: ENST00000590582.1:c.223-28A>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465862
  ensembl transcript: ENST00000586897
  gene symbol: HKR1
  hgvsc: ENST00000586897.1:c.35-28A>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000467562
  ensembl transcript: ENST00000589392
  gene symbol: HKR1
  hgvsc: ENST00000589392.1:c.161-28A>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466533
  ensembl transcript: ENST00000587437
  gene symbol: HKR1
  hgvsc: ENST00000587437.1:c.*200-28A>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181666
  ensembl transcript: ENST00000590570
  gene symbol: HKR1
  hgvsc: ENST00000590570.1:n.187A>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000438261
  ensembl transcript: ENST00000541583
  gene symbol: HKR1
  hgvsc: ENST00000541583.2:c.35-28A>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466856
  ensembl transcript: ENST00000591134
  gene symbol: HKR1
  hgvsc: ENST00000591134.1:c.35-28A>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466360
  ensembl transcript: ENST00000585623
  gene symbol: HKR1
  hgvsc: ENST00000585623.1:c.35-28A>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466472
  ensembl transcript: ENST00000591259
  gene symbol: HKR1
  hgvsc: ENST00000591259.1:c.161-28A>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000315505
  ensembl transcript: ENST00000324411
  gene symbol: HKR1
  hgvsc: ENST00000324411.4:c.218-28A>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465884
  ensembl transcript: ENST00000592768
  gene symbol: HKR1
  hgvsc: ENST00000592768.1:c.35-28A>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000437774
  ensembl transcript: ENST00000544914
  gene symbol: HKR1
  hgvsc: ENST00000544914.1:c.-602-28A>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468572
  ensembl transcript: ENST00000590166
  gene symbol: HKR1
  hgvsc: ENST00000590166.1:c.35-28A>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000466467
  ensembl transcript: ENST00000591471
  gene symbol: HKR1
  hgvsc: ENST00000591471.1:c.-801-28A>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465899
  ensembl transcript: ENST00000591417
  gene symbol: HKR1
  hgvsc: ENST00000591417.1:c.35-28A>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000465297
  ensembl transcript: ENST00000589188
  gene symbol: HKR1
  hgvsc: ENST00000589188.1:c.35-28A>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000468176
  ensembl transcript: ENST00000591391
  gene symbol: HKR1
  hgvsc: ENST00000591391.1:c.119-28A>T
  variant of: http://identifiers.org/hgnc/4928
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181666
  ensembl protein: ENSP00000375994
  ensembl transcript: ENST00000392153
  gene symbol: HKR1
  hgvsc: ENST00000392153.3:c.161-28A>T
  variant of: http://identifiers.org/hgnc/4928
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
reference allele: A

GenotypeDepth
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Latino
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DP
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FS
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MQ
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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Latino
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African
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South Asian
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BaseQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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ClippingRankSum
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QD
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DP
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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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QD
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BaseQRankSum
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FS
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ClippingRankSum
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African
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MQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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QD
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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Other
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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FS
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VQSLOD
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MQ
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BaseQRankSum
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InbreedingCoeff
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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African
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Latino
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Other
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South Asian
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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QD
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BaseQRankSum
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FS
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MQ
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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South Asian
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Other
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European (Non-Finnish)
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European (Finnish)
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East Asian
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DP
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SIO_000300: 8.2468e4

BaseQRankSum
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VQSLOD
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FS
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SIO_000300: 0.0e0

MQ
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ReadPosRankSum
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SIO_000300: 9.16e-1

MQRankSum
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ClippingRankSum
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SIO_000300: -1.621e0

InbreedingCoeff
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SIO_000300: -9.660000000000001e-2

QD
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GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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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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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

South Asian
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VQSLOD
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DP
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MQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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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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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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East Asian
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ClippingRankSum
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SIO_000300: -7.27e-1

QD
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InbreedingCoeff
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DP
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BaseQRankSum
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MQRankSum
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VQSLOD
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 7.27e-1

MQ
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SIO_000300: 5.513e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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 frequency: 0.0e0
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num of homozygotes: 0

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

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

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

Latino
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South Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.233139794551139e-4
allele num: 4478
num of homozygotes: 0

East Asian
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European (Finnish)
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allele frequency: 0.0e0
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MQ
type: SiteQuality
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BaseQRankSum
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DP
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ClippingRankSum
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VQSLOD
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QD
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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South Asian
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FS
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DP
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QD
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VQSLOD
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MQ
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South Asian
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European (Finnish)
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European (Non-Finnish)
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FS
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ReadPosRankSum
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QD
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VQSLOD
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MQ
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MQRankSum
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DP
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European (Non-Finnish)
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African
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European (Finnish)
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South Asian
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FS
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BaseQRankSum
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DP
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MQ
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ReadPosRankSum
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South Asian
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European (Finnish)
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VQSLOD
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DP
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European (Finnish)
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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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Latino
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East Asian
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VQSLOD
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QD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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East Asian
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Latino
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European (Non-Finnish)
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VQSLOD
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ClippingRankSum
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DP
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FS
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MQ
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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South Asian
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African
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East Asian
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Latino
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Other
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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DP
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QD
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MQ
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MQRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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South Asian
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African
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Latino
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European (Non-Finnish)
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East Asian
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ReadPosRankSum
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MQ
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MQRankSum
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FS
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VQSLOD
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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European (Non-Finnish)
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African
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Other
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DP
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MQRankSum
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MQ
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.091e0

VQSLOD
type: SiteQuality
SIO_000300: 2.36e-1

FS
type: SiteQuality
SIO_000300: 4.22e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.322e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.423e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.672855e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000181666
ensembl protein: ENSP00000437774
ensembl transcript: ENST00000544914
gene symbol: HKR1
hgvsc: ENST00000544914.1:c.-602-586C>T
variant of: http://identifiers.org/hgnc/4928

GenotypeDepth
all individuals: 277
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 10047
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 486
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 738
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2393
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1637
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 369
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2110
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 9619
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3777
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11469
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7965
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1974
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1158
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 934
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5730
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4027
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13091
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2904
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2412
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4839
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6224
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4595
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22582
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.194e0

QD
type: SiteQuality
SIO_000300: 1.341e1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

DP
type: SiteQuality
SIO_000300: 2.67299e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.66e-1

FS
type: SiteQuality
SIO_000300: 7.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.85e-1

Annotation
canonical: false
consequence: splice_region_variant
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000181666
ensembl protein: ENSP00000465297
ensembl transcript: ENST00000589188
gene symbol: HKR1
hgvsc: ENST00000589188.1:c.-91G>A
variant of: http://identifiers.org/hgnc/4928

GenotypeDepth
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2111
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7964
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9619
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5730
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2391
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3778
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1973
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1638
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 486
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11470
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1158
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 934
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10047
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 738
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13090
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 0
bin: 1.25e1
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: 2
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22581
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2904
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4839
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4027
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4596
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2413
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6225
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
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: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
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: 10406
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: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

DP
type: SiteQuality
SIO_000300: 2.67296e6

MQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.86e-1

QD
type: SiteQuality
SIO_000300: 1.419e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeDepth
all individuals: 2111
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2392
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 738
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 934
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1159
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5729
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11468
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10050
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 369
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1637
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 486
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1974
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9620
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7965
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3777
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4838
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6226
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4596
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2412
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 13094
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22580
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2902
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4026
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.673026e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

FS
type: SiteQuality
SIO_000300: 8.631e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

QD
type: SiteQuality
SIO_000300: 1.145e1

VQSLOD
type: SiteQuality
SIO_000300: -4.848e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeDepth
all individuals: 369
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1974
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3777
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1637
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11468
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10050
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 9.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 934
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2392
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 738
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2111
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5729
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1159
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9620
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7965
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 486
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2412
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4838
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6226
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2902
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13094
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4026
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22580
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4596
bin: 8.25e1
variant carriers: 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: 10406
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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.145e1

FS
type: SiteQuality
SIO_000300: 8.631e0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.84e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.848e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

DP
type: SiteQuality
SIO_000300: 2.673026e6

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

GenotypeDepth
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1157
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10053
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1636
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7964
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9618
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2110
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 933
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11470
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2392
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1978
bin: 9.75e1
variant carriers: 5

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

GenotypeDepth
all individuals: 3777
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5728
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 369
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 485
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 738
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4597
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22579
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 4838
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2412
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2902
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4026
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13096
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6230
bin: 6.75e1
variant carriers: 0

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

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

European (Finnish)
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South Asian
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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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BaseQRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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VQSLOD
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ClippingRankSum
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QD
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele num: 66414
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African
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European (Finnish)
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East Asian
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South Asian
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Latino
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num of homozygotes: 0

Other
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MQ
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DP
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ClippingRankSum
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BaseQRankSum
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FS
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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VQSLOD
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GenotypeDepth
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variant carriers: 1

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 14

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

GenotypeQuality
all individuals: 75
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.506523245653681e-4
allele num: 66378
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15914
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.91e0

DP
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SIO_000300: 2.657124e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 1.254e0

QD
type: SiteQuality
SIO_000300: 1.446e1

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

MQ
type: SiteQuality
SIO_000300: 5.923e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

GenotypeDepth
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bin: 3.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11561
bin: 6.25e1
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: 2
allele frequency: 1.729804532087874e-4
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66272
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15606
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: 1.7e-3

FS
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SIO_000300: 2.32e0

MQRankSum
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SIO_000300: 2.05e-1

DP
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SIO_000300: 2.644285e6

BaseQRankSum
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SIO_000300: 3.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.4e-2

MQ
type: SiteQuality
SIO_000300: 5.941e1

VQSLOD
type: SiteQuality
SIO_000300: 9.91e-1

QD
type: SiteQuality
SIO_000300: 1.416e1

GenotypeDepth
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bin: 9.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 214
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variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66266
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.077e1

QD
type: SiteQuality
SIO_000300: 1.23e1

BaseQRankSum
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SIO_000300: 3.37e0

VQSLOD
type: SiteQuality
SIO_000300: -1.157e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.84e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.61e-1

DP
type: SiteQuality
SIO_000300: 2.643803e6

GenotypeDepth
all individuals: 405
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1317
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 948
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variant carriers: 0

GenotypeDepth
all individuals: 2358
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 30
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variant carriers: 0

GenotypeDepth
all individuals: 5652
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 43
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GenotypeQuality
all individuals: 23
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 61
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GenotypeQuality
all individuals: 2786
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
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: 2
allele frequency: 1.299714062906161e-4
allele num: 15388
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66156
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: 1.1e-3

DP
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SIO_000300: 2.635856e6

QD
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SIO_000300: 1.411e1

VQSLOD
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SIO_000300: 5.1e-2

MQRankSum
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SIO_000300: 1.1e0

FS
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SIO_000300: 8.066000000000001e0

BaseQRankSum
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SIO_000300: -4.501e0

MQ
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SIO_000300: 5.954e1

ReadPosRankSum
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SIO_000300: 9.94e-1

ClippingRankSum
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SIO_000300: -9.0e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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variant carriers: 73

GenotypeDepth
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variant carriers: 8

GenotypeDepth
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GenotypeDepth
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variant carriers: 18

GenotypeDepth
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variant carriers: 24

GenotypeDepth
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variant carriers: 9

GenotypeDepth
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variant carriers: 48

GenotypeDepth
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variant carriers: 73

GenotypeDepth
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variant carriers: 7

GenotypeDepth
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variant carriers: 393

GenotypeDepth
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variant carriers: 56

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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variant carriers: 71

GenotypeDepth
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variant carriers: 35

GenotypeDepth
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variant carriers: 59

GenotypeQuality
all individuals: 22525
bin: 9.75e1
variant carriers: 944

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 4546
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GenotypeQuality
all individuals: 11058
bin: 6.25e1
variant carriers: 2

Latino
type: Population
allele count: 62
allele frequency: 5.365178262374524e-3
allele num: 11556
num of homozygotes: 2

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

African
type: Population
allele count: 933
allele frequency: 8.979788257940327e-2
allele num: 10390
num of homozygotes: 56

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.361285053090117e-4
allele num: 66114
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.312335958005249e-4
allele num: 15240
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.366e0

MQRankSum
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SIO_000300: 2.52e-1

ClippingRankSum
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MQ
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SIO_000300: 5.957e1

BaseQRankSum
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SIO_000300: -3.799e0

QD
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SIO_000300: 1.495e1

InbreedingCoeff
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SIO_000300: 9.88e-2

DP
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SIO_000300: 2.629091e6

VQSLOD
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SIO_000300: 3.83e0

ReadPosRankSum
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SIO_000300: 5.27e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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
all individuals: 378
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variant carriers: 0

GenotypeQuality
all individuals: 37
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GenotypeQuality
all individuals: 21976
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variant carriers: 1

GenotypeQuality
all individuals: 4789
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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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European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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European (Non-Finnish)
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South Asian
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MQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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QD
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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

South Asian
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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

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

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

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

South Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 65710
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African
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East Asian
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: 1.46e0

MQ
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ReadPosRankSum
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QD
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FS
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MQRankSum
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DP
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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allele frequency: 9.199349912606176e-5
allele num: 65222
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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Other
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South Asian
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East Asian
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allele frequency: 1.255965837729214e-4
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African
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allele frequency: 0.0e0
allele num: 9910
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.053e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

VQSLOD
type: SiteQuality
SIO_000300: -1.018e-1

QD
type: SiteQuality
SIO_000300: 1.144e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.371916e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.884e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.139e0

GenotypeDepth
all individuals: 9186
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 799
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 252
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3168
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10442
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1226
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3079
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 136
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 136
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 400
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 439
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2470
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3680
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3211
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1406
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5143
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4628
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1258
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1150
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25094
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
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variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.589319771137953e-5
allele num: 62920
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10782
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.198e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQ
type: SiteQuality
SIO_000300: 5.889e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.725e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

DP
type: SiteQuality
SIO_000300: 1.380443e6

GenotypeDepth
all individuals: 176
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 439
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7076
bin: 1.25e1
variant carriers: 0

GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3210
bin: 3.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2879
bin: 7.5e0
variant carriers: 0

GenotypeDepth
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bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3463
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 53
bin: 9.25e1
variant carriers: 0

GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10574
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 559
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 195
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34635
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1138
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1766
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2821
bin: 3.75e1
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: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1176
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3987
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1282
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3420
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10962
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.00060036021613e-4
allele num: 9994
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63524
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.332320162107397e-5
allele num: 15792
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.863e-1

QD
type: SiteQuality
SIO_000300: 1.824e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

DP
type: SiteQuality
SIO_000300: 1.451081e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.84e-1

GenotypeDepth
all individuals: 400
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 460
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variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0