19-46280718-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280718
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280718
    reference: chr 19
allele count: 1
allele frequency: 8.353102342209896e-6
allele num: 119716
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.858T>C
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*835T>C
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.1013T>C
  hgvsp: ENSP00000291270.3:p.Phe338Ser
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.1043T>C
  hgvsp: ENSP00000345997.3:p.Phe348Ser
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.1043T>C
  hgvsp: ENSP00000472965.1:p.Phe348Ser
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.1013T>C
  hgvsp: ENSP00000401753.1:p.Phe338Ser
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.1013T>C
  hgvsp: ENSP00000413417.1:p.Phe338Ser
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.1013T>C
  hgvsp: ENSP00000346168.5:p.Phe338Ser
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Phe348Ser
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

19-46280721-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280721
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280721
    reference: chr 19
allele count: 138
allele frequency: 1.152882205513784e-3
allele num: 119700
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.1010C>G
  hgvsp: ENSP00000413417.1:p.Pro337Arg
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.1010C>G
  hgvsp: ENSP00000346168.5:p.Pro337Arg
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.1040C>G
  hgvsp: ENSP00000345997.3:p.Pro347Arg
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.1010C>G
  hgvsp: ENSP00000291270.3:p.Pro337Arg
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.1010C>G
  hgvsp: ENSP00000401753.1:p.Pro337Arg
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.1040C>G
  hgvsp: ENSP00000472965.1:p.Pro347Arg
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*832C>G
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.855C>G
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 14623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40203
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro347Arg
num of homozygotes: 1
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-46280730-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280730
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280730
    reference: chr 19
allele count: 22
allele frequency: 1.838419627636461e-4
allele num: 119668
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.1001G>A
  hgvsp: ENSP00000346168.5:p.Arg334Gln
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.1001G>A
  hgvsp: ENSP00000291270.3:p.Arg334Gln
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.1001G>A
  hgvsp: ENSP00000401753.1:p.Arg334Gln
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.1001G>A
  hgvsp: ENSP00000413417.1:p.Arg334Gln
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*823G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.1031G>A
  hgvsp: ENSP00000345997.3:p.Arg344Gln
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.1031G>A
  hgvsp: ENSP00000472965.1:p.Arg344Gln
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.846G>A
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 9.75e1
  variant carriers: 22
hgvs: p.Arg344Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

19-46280731-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280731
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280731
    reference: chr 19
allele count: 9
allele frequency: 7.518796992481203e-5
allele num: 119700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.1000C>T
  hgvsp: ENSP00000346168.5:p.Arg334Trp
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*822C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.1000C>T
  hgvsp: ENSP00000401753.1:p.Arg334Trp
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.845C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.1030C>T
  hgvsp: ENSP00000345997.3:p.Arg344Trp
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.1000C>T
  hgvsp: ENSP00000291270.3:p.Arg334Trp
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.1030C>T
  hgvsp: ENSP00000472965.1:p.Arg344Trp
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.1000C>T
  hgvsp: ENSP00000413417.1:p.Arg334Trp
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg344Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

19-46280732-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280732
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280732
    reference: chr 19
allele count: 2
allele frequency: 1.670815859384137e-5
allele num: 119702
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.1029C>G
  hgvsp: ENSP00000472965.1:p.Phe343Leu
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.999C>G
  hgvsp: ENSP00000346168.5:p.Phe333Leu
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.1029C>G
  hgvsp: ENSP00000345997.3:p.Phe343Leu
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.999C>G
  hgvsp: ENSP00000291270.3:p.Phe333Leu
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*821C>G
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.999C>G
  hgvsp: ENSP00000401753.1:p.Phe333Leu
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.999C>G
  hgvsp: ENSP00000413417.1:p.Phe333Leu
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.844C>G
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49463
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Phe343Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

19-46280738-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280738
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280738
    reference: chr 19
allele count: 14
allele frequency: 1.169571101568896e-4
allele num: 119702
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.1023C>T
  hgvsp: ENST00000343373.4:c.1023C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.993C>T
  hgvsp: ENST00000458663.2:c.993C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.993C>T
  hgvsp: ENST00000354227.5:c.993C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.993C>T
  hgvsp: ENST00000447742.2:c.993C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.1023C>T
  hgvsp: ENST00000600757.1:c.1023C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.993C>T
  hgvsp: ENST00000291270.4:c.993C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.838C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*815C>T
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49382
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly341Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

19-46280739-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280739
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280739
    reference: chr 19
allele count: 1
allele frequency: 8.354079296920687e-6
allele num: 119702
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.1022G>A
  hgvsp: ENSP00000472965.1:p.Gly341Asp
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*814G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.992G>A
  hgvsp: ENSP00000291270.3:p.Gly331Asp
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.1022G>A
  hgvsp: ENSP00000345997.3:p.Gly341Asp
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.992G>A
  hgvsp: ENSP00000346168.5:p.Gly331Asp
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.992G>A
  hgvsp: ENSP00000401753.1:p.Gly331Asp
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.837G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.992G>A
  hgvsp: ENSP00000413417.1:p.Gly331Asp
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49214
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly341Asp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

19-46280742-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280742
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280742
    reference: chr 19
allele count: 1
allele frequency: 8.357989402069439e-6
allele num: 119646
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.989C>T
  hgvsp: ENSP00000291270.3:p.Ala330Val
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.989C>T
  hgvsp: ENSP00000413417.1:p.Ala330Val
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.989C>T
  hgvsp: ENSP00000401753.1:p.Ala330Val
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.989C>T
  hgvsp: ENSP00000346168.5:p.Ala330Val
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*811C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.1019C>T
  hgvsp: ENSP00000472965.1:p.Ala340Val
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.1019C>T
  hgvsp: ENSP00000345997.3:p.Ala340Val
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.834C>T
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala340Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ

19-46280743-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280743
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280743
    reference: chr 19
allele count: 1
allele frequency: 8.355754608198667e-6
allele num: 119678
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.988G>A
  hgvsp: ENSP00000401753.1:p.Ala330Thr
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.988G>A
  hgvsp: ENSP00000346168.5:p.Ala330Thr
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.1018G>A
  hgvsp: ENSP00000472965.1:p.Ala340Thr
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.988G>A
  hgvsp: ENSP00000291270.3:p.Ala330Thr
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.1018G>A
  hgvsp: ENSP00000345997.3:p.Ala340Thr
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.833G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*810G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.988G>A
  hgvsp: ENSP00000413417.1:p.Ala330Thr
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala340Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/19-46280747-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280747
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280747
    reference: chr 19
allele count: 1
allele frequency: 8.413400864897609e-6
allele num: 118858
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.1014T>G
  hgvsp: ENST00000343373.4:c.1014T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.984T>G
  hgvsp: ENST00000458663.2:c.984T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.984T>G
  hgvsp: ENST00000354227.5:c.984T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.984T>G
  hgvsp: ENST00000447742.2:c.984T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.984T>G
  hgvsp: ENST00000291270.4:c.984T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.829T>G
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*806T>G
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.1014T>G
  hgvsp: ENST00000600757.1:c.1014T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14524
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5129
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly338Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP

19-46280748-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280748
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280748
    reference: chr 19
allele count: 6
allele frequency: 5.011107955969064e-5
allele num: 119734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*805G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.983G>A
  hgvsp: ENSP00000346168.5:p.Gly328Asp
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.828G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.1013G>A
  hgvsp: ENSP00000345997.3:p.Gly338Asp
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.1013G>A
  hgvsp: ENSP00000472965.1:p.Gly338Asp
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.983G>A
  hgvsp: ENSP00000401753.1:p.Gly328Asp
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.983G>A
  hgvsp: ENSP00000413417.1:p.Gly328Asp
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.983G>A
  hgvsp: ENSP00000291270.3:p.Gly328Asp
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly338Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

19-46280751-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280751
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280751
    reference: chr 19
allele count: 20
allele frequency: 1.671765551599044e-4
allele num: 119634
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.1010G>A
  hgvsp: ENSP00000345997.3:p.Arg337Gln
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.980G>A
  hgvsp: ENSP00000413417.1:p.Arg327Gln
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.980G>A
  hgvsp: ENSP00000291270.3:p.Arg327Gln
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*802G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.1010G>A
  hgvsp: ENSP00000472965.1:p.Arg337Gln
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.825G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.980G>A
  hgvsp: ENSP00000401753.1:p.Arg327Gln
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.980G>A
  hgvsp: ENSP00000346168.5:p.Arg327Gln
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg337Gln
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP

19-46280753-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280753
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280753
    reference: chr 19
allele count: 1
allele frequency: 8.37058242512514e-6
allele num: 119466
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.978C>T
  hgvsp: ENST00000354227.5:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.823C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*800C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.1008C>T
  hgvsp: ENST00000600757.1:c.1008C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.978C>T
  hgvsp: ENST00000447742.2:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.1008C>T
  hgvsp: ENST00000343373.4:c.1008C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.978C>T
  hgvsp: ENST00000458663.2:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.978C>T
  hgvsp: ENST00000291270.4:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly336Gly
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

19-46280768-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280768
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280768
    reference: chr 19
allele count: 15
allele frequency: 1.252024105637447e-4
allele num: 119806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.993G>A
  hgvsp: ENST00000600757.1:c.993G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.963G>A
  hgvsp: ENST00000354227.5:c.963G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.963G>A
  hgvsp: ENST00000458663.2:c.963G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.963G>A
  hgvsp: ENST00000447742.2:c.963G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.963G>A
  hgvsp: ENST00000291270.4:c.963G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*785G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.993G>A
  hgvsp: ENST00000343373.4:c.993G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.808G>A
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15006
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 49592
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro331Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

19-46280769-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280769
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280769
    reference: chr 19
allele count: 3
allele frequency: 2.50354669114579e-5
allele num: 119830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.962C>T
  hgvsp: ENSP00000401753.1:p.Pro321Leu
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*784C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.962C>T
  hgvsp: ENSP00000413417.1:p.Pro321Leu
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.962C>T
  hgvsp: ENSP00000291270.3:p.Pro321Leu
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.992C>T
  hgvsp: ENSP00000345997.3:p.Pro331Leu
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.962C>T
  hgvsp: ENSP00000346168.5:p.Pro321Leu
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.992C>T
  hgvsp: ENSP00000472965.1:p.Pro331Leu
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.807C>T
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro331Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

19-46280772-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280772
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280772
    reference: chr 19
allele count: 1
allele frequency: 8.342649291709075e-6
allele num: 119866
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.959C>A
  hgvsp: ENSP00000346168.5:p.Pro320His
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*781C>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.989C>A
  hgvsp: ENSP00000345997.3:p.Pro330His
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.804C>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.959C>A
  hgvsp: ENSP00000401753.1:p.Pro320His
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.989C>A
  hgvsp: ENSP00000472965.1:p.Pro330His
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.959C>A
  hgvsp: ENSP00000413417.1:p.Pro320His
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.959C>A
  hgvsp: ENSP00000291270.3:p.Pro320His
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3516
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro330His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

19-46280777-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280777
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280777
    reference: chr 19
allele count: 1
allele frequency: 8.340422692622062e-6
allele num: 119898
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.984G>C
  hgvsp: ENST00000600757.1:c.984G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.954G>C
  hgvsp: ENST00000458663.2:c.954G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.954G>C
  hgvsp: ENST00000291270.4:c.954G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.954G>C
  hgvsp: ENST00000354227.5:c.954G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.954G>C
  hgvsp: ENST00000447742.2:c.954G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.984G>C
  hgvsp: ENST00000343373.4:c.984G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.799G>C
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*776G>C
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5357
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu328Leu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

19-46280783-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280783
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280783
    reference: chr 19
allele count: 1
allele frequency: 8.336668000533546e-6
allele num: 119952
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.978G>A
  hgvsp: ENST00000343373.4:c.978G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.948G>A
  hgvsp: ENST00000291270.4:c.948G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.948G>A
  hgvsp: ENST00000458663.2:c.948G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.948G>A
  hgvsp: ENST00000354227.5:c.948G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.948G>A
  hgvsp: ENST00000447742.2:c.948G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.978G>A
  hgvsp: ENST00000600757.1:c.978G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.793G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*770G>A
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5362
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg326Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

19-46280784-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280784
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280784
    reference: chr 19
allele count: 11
allele frequency: 9.169876123309825e-5
allele num: 119958
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.977G>A
  hgvsp: ENSP00000345997.3:p.Arg326Gln
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.947G>A
  hgvsp: ENSP00000413417.1:p.Arg316Gln
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.947G>A
  hgvsp: ENSP00000346168.5:p.Arg316Gln
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.947G>A
  hgvsp: ENSP00000401753.1:p.Arg316Gln
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.977G>A
  hgvsp: ENSP00000472965.1:p.Arg326Gln
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*769G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.947G>A
  hgvsp: ENSP00000291270.3:p.Arg316Gln
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.792G>A
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5357
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg326Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum

19-46280785-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280785
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280785
    reference: chr 19
allele count: 2
allele frequency: 1.66725020423815e-5
allele num: 119958
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.946C>T
  hgvsp: ENSP00000413417.1:p.Arg316Trp
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.946C>T
  hgvsp: ENSP00000401753.1:p.Arg316Trp
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.946C>T
  hgvsp: ENSP00000291270.3:p.Arg316Trp
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.976C>T
  hgvsp: ENSP00000345997.3:p.Arg326Trp
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.946C>T
  hgvsp: ENSP00000346168.5:p.Arg316Trp
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.791C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.976C>T
  hgvsp: ENSP00000472965.1:p.Arg326Trp
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*768C>T
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg326Trp
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

19-46280787-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280787
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280787
    reference: chr 19
allele count: 1
allele frequency: 8.334027835652971e-6
allele num: 119990
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.974A>G
  hgvsp: ENSP00000345997.3:p.Gln325Arg
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.944A>G
  hgvsp: ENSP00000291270.3:p.Gln315Arg
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.944A>G
  hgvsp: ENSP00000401753.1:p.Gln315Arg
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.944A>G
  hgvsp: ENSP00000413417.1:p.Gln315Arg
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.974A>G
  hgvsp: ENSP00000472965.1:p.Gln325Arg
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*766A>G
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.944A>G
  hgvsp: ENSP00000346168.5:p.Gln315Arg
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.789A>G
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3526
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln325Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-46280791-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280791
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280791
    reference: chr 19
allele count: 1
allele frequency: 8.333750020834376e-6
allele num: 119994
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.940A>T
  hgvsp: ENSP00000346168.5:p.Ile314Phe
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.970A>T
  hgvsp: ENSP00000345997.3:p.Ile324Phe
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.940A>T
  hgvsp: ENSP00000401753.1:p.Ile314Phe
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.940A>T
  hgvsp: ENSP00000413417.1:p.Ile314Phe
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.940A>T
  hgvsp: ENSP00000291270.3:p.Ile314Phe
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*762A>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.970A>T
  hgvsp: ENSP00000472965.1:p.Ile324Phe
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.785A>T
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49854
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile324Phe
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

19-46280791-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280791
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280791
    reference: chr 19
allele count: 1
allele frequency: 8.333750020834376e-6
allele num: 119994
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.970A>G
  hgvsp: ENSP00000472965.1:p.Ile324Val
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.970A>G
  hgvsp: ENSP00000345997.3:p.Ile324Val
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.940A>G
  hgvsp: ENSP00000291270.3:p.Ile314Val
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.940A>G
  hgvsp: ENSP00000401753.1:p.Ile314Val
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.940A>G
  hgvsp: ENSP00000346168.5:p.Ile314Val
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.940A>G
  hgvsp: ENSP00000413417.1:p.Ile314Val
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.785A>G
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*762A>G
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5355
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49854
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile324Val
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

19-46280798-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280798
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280798
    reference: chr 19
allele count: 3
allele frequency: 2.499708367357142e-5
allele num: 120014
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.778A>G
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.963A>G
  hgvsp: ENST00000600757.1:c.963A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.963A>G
  hgvsp: ENST00000343373.4:c.963A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.933A>G
  hgvsp: ENST00000354227.5:c.933A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.933A>G
  hgvsp: ENST00000458663.2:c.933A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*755A>G
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.933A>G
  hgvsp: ENST00000447742.2:c.933A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.933A>G
  hgvsp: ENST00000291270.4:c.933A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg321Arg
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

19-46280799-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280799
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280799
    reference: chr 19
allele count: 28
allele frequency: 2.33298338582546e-4
allele num: 120018
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.932G>A
  hgvsp: ENSP00000346168.5:p.Arg311Gln
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.932G>A
  hgvsp: ENSP00000401753.1:p.Arg311Gln
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.932G>A
  hgvsp: ENSP00000291270.3:p.Arg311Gln
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.962G>A
  hgvsp: ENSP00000472965.1:p.Arg321Gln
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.962G>A
  hgvsp: ENSP00000345997.3:p.Arg321Gln
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*754G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.932G>A
  hgvsp: ENSP00000413417.1:p.Arg311Gln
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.777G>A
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39352
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15164
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg321Gln
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

19-46280800-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280800
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280800
    reference: chr 19
allele count: 2
allele frequency: 1.66591700401486e-5
allele num: 120054
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.961C>G
  hgvsp: ENSP00000345997.3:p.Arg321Gly
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.931C>G
  hgvsp: ENSP00000291270.3:p.Arg311Gly
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.776C>G
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.931C>G
  hgvsp: ENSP00000413417.1:p.Arg311Gly
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.961C>G
  hgvsp: ENSP00000472965.1:p.Arg321Gly
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.931C>G
  hgvsp: ENSP00000401753.1:p.Arg311Gly
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*753C>G
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.931C>G
  hgvsp: ENSP00000346168.5:p.Arg311Gly
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg321Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

19-46280816-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280816
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280816
    reference: chr 19
allele count: 1
allele frequency: 8.325701440346349e-6
allele num: 120110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.945G>A
  hgvsp: ENST00000600757.1:c.945G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.915G>A
  hgvsp: ENST00000291270.4:c.915G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.945G>A
  hgvsp: ENST00000343373.4:c.945G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.915G>A
  hgvsp: ENST00000458663.2:c.915G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.915G>A
  hgvsp: ENST00000447742.2:c.915G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.915G>A
  hgvsp: ENST00000354227.5:c.915G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.760G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*737G>A
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49342
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly315Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

19-46280821-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280821
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280821
    reference: chr 19
allele count: 3
allele frequency: 2.498667377398721e-5
allele num: 120064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*732G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.910G>A
  hgvsp: ENSP00000401753.1:p.Glu304Lys
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.755G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.910G>A
  hgvsp: ENSP00000346168.5:p.Glu304Lys
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.940G>A
  hgvsp: ENSP00000472965.1:p.Glu314Lys
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.940G>A
  hgvsp: ENSP00000345997.3:p.Glu314Lys
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.910G>A
  hgvsp: ENSP00000291270.3:p.Glu304Lys
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.910G>A
  hgvsp: ENSP00000413417.1:p.Glu304Lys
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48743
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu314Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

19-46280822-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280822
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280822
    reference: chr 19
allele count: 4
allele frequency: 3.33061333244517e-5
allele num: 120098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.939C>T
  hgvsp: ENST00000600757.1:c.939C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.909C>T
  hgvsp: ENST00000291270.4:c.909C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.754C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.909C>T
  hgvsp: ENST00000447742.2:c.909C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.909C>T
  hgvsp: ENST00000354227.5:c.909C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.939C>T
  hgvsp: ENST00000343373.4:c.939C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.909C>T
  hgvsp: ENST00000458663.2:c.909C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*731C>T
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp313Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

19-46280831-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280831
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280831
    reference: chr 19
allele count: 2
allele frequency: 1.667139022723105e-5
allele num: 119966
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.900G>A
  hgvsp: ENST00000447742.2:c.900G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.900G>A
  hgvsp: ENST00000458663.2:c.900G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.930G>A
  hgvsp: ENST00000343373.4:c.930G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.930G>A
  hgvsp: ENST00000600757.1:c.930G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*722G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.306G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.900G>A
  hgvsp: ENST00000354227.5:c.900G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.900G>A
  hgvsp: ENST00000291270.4:c.900G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.745G>A
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro310Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-46280832-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280832
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280832
    reference: chr 19
allele count: 7
allele frequency: 5.82837921100398e-5
allele num: 120102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.929C>T
  hgvsp: ENSP00000472965.1:p.Pro310Leu
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.899C>T
  hgvsp: ENSP00000291270.3:p.Pro300Leu
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.305C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.899C>T
  hgvsp: ENSP00000346168.5:p.Pro300Leu
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.899C>T
  hgvsp: ENSP00000413417.1:p.Pro300Leu
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.929C>T
  hgvsp: ENSP00000345997.3:p.Pro310Leu
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.744C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*721C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.899C>T
  hgvsp: ENSP00000401753.1:p.Pro300Leu
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro310Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

19-46280836-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280836
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280836
    reference: chr 19
allele count: 4
allele frequency: 3.329116452493508e-5
allele num: 120152
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.895C>T
  hgvsp: ENST00000458663.2:c.895C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.895C>T
  hgvsp: ENST00000354227.5:c.895C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.895C>T
  hgvsp: ENST00000291270.4:c.895C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.925C>T
  hgvsp: ENST00000600757.1:c.925C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.895C>T
  hgvsp: ENST00000447742.2:c.895C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*717C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.740C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.925C>T
  hgvsp: ENST00000343373.4:c.925C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.301C>T
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu309Leu
num of homozygotes: 0
population: Latino
population: African
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: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

19-46280838-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280838
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280838
    reference: chr 19
allele count: 45
allele frequency: 3.744757339724386e-4
allele num: 120168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.893C>T
  hgvsp: ENSP00000346168.5:p.Ser298Phe
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.893C>T
  hgvsp: ENSP00000401753.1:p.Ser298Phe
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*715C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.738C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.299C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.923C>T
  hgvsp: ENSP00000472965.1:p.Ser308Phe
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.923C>T
  hgvsp: ENSP00000345997.3:p.Ser308Phe
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.893C>T
  hgvsp: ENSP00000413417.1:p.Ser298Phe
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.893C>T
  hgvsp: ENSP00000291270.3:p.Ser298Phe
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15290
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 38693
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 9.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser308Phe
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

19-46280838-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280838
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280838
    reference: chr 19
allele count: 123
allele frequency: 1.023567006191332e-3
allele num: 120168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.893C>G
  hgvsp: ENSP00000401753.1:p.Ser298Cys
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.299C>G
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.923C>G
  hgvsp: ENSP00000472965.1:p.Ser308Cys
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.893C>G
  hgvsp: ENSP00000413417.1:p.Ser298Cys
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.893C>G
  hgvsp: ENSP00000291270.3:p.Ser298Cys
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.893C>G
  hgvsp: ENSP00000346168.5:p.Ser298Cys
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.923C>G
  hgvsp: ENSP00000345997.3:p.Ser308Cys
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*715C>G
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.738C>G
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 15290
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 38693
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 9.75e1
  variant carriers: 122
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser308Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

19-46280842-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280842
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280842
    reference: chr 19
allele count: 1
allele frequency: 8.319744417451495e-6
allele num: 120196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.889C>T
  hgvsp: ENSP00000413417.1:p.Leu297Phe
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.919C>T
  hgvsp: ENSP00000345997.3:p.Leu307Phe
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*711C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.919C>T
  hgvsp: ENSP00000472965.1:p.Leu307Phe
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.889C>T
  hgvsp: ENSP00000346168.5:p.Leu297Phe
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.889C>T
  hgvsp: ENSP00000291270.3:p.Leu297Phe
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.889C>T
  hgvsp: ENSP00000401753.1:p.Leu297Phe
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.734C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.295C>T
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49131
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu307Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP

19-46280843-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280843
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280843
    reference: chr 19
allele count: 12
allele frequency: 9.98003992015968e-5
allele num: 120240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.888C>T
  hgvsp: ENST00000291270.4:c.888C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.733C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.918C>T
  hgvsp: ENST00000343373.4:c.918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.888C>T
  hgvsp: ENST00000354227.5:c.888C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*710C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.888C>T
  hgvsp: ENST00000458663.2:c.888C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.294C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.888C>T
  hgvsp: ENST00000447742.2:c.888C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.918C>T
  hgvsp: ENST00000600757.1:c.918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15365
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38657
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His306His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/19-46280852-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280852
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280852
    reference: chr 19
allele count: 1
allele frequency: 8.320575118152166e-6
allele num: 120184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*705-4G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.883-4G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.883-4G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.883-4G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.289-4G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.728-4G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.913-4G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.913-4G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.883-4G>T
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 3.25e1
  variant carriers: 0
hgvs: c.913-4G>T
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

19-46280859-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280859
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280859
    reference: chr 19
allele count: 1
allele frequency: 8.313657676831499e-6
allele num: 120284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.883-11C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.913-11C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.883-11C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.883-11C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*705-11C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.289-11C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.883-11C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.913-11C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.728-11C>T
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-46280860-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280860
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280860
    reference: chr 19
allele count: 2
allele frequency: 1.66281447978849e-5
allele num: 120278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.289-12C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.913-12C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.883-12C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.883-12C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.728-12C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*705-12C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.883-12C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.883-12C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.913-12C>T
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-46280863-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280863
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280863
    reference: chr 19
allele count: 1
allele frequency: 8.315316813570598e-6
allele num: 120260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.289-15T>C
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.913-15T>C
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.883-15T>C
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.913-15T>C
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*705-15T>C
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.728-15T>C
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.883-15T>C
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.883-15T>C
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.883-15T>C
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48709
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5261
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

19-46280865-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280865
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280865
    reference: chr 19
allele count: 1
allele frequency: 8.312275568559649e-6
allele num: 120304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.883-17C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.289-17C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*705-17C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.883-17C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.883-17C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.913-17C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.728-17C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.913-17C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.883-17C>T
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-46280869-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280869
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280869
    reference: chr 19
allele count: 3
allele frequency: 2.494636531457367e-5
allele num: 120258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.883-21G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.913-21G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.289-21G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.728-21G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*705-21G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.883-21G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.883-21G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.883-21G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.913-21G>A
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5250
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

19-46280870-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280870
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280870
    reference: chr 19
allele count: 3
allele frequency: 2.493309619188511e-5
allele num: 120322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.883-22C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.913-22C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.289-22C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.913-22C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.883-22C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.883-22C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.883-22C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*705-22C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.728-22C>T
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/19-46280875-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280875
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280875
    reference: chr 19
allele count: 1
allele frequency: 8.311170212765958e-6
allele num: 120320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.883-27G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*705-27G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.883-27G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.728-27G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.913-27G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.883-27G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.289-27G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.883-27G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.913-27G>T
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

19-46280877-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280877
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280876
    reference: chr 19
allele count: 13
allele frequency: 1.079859784360308e-4
allele num: 120386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.883-30delC
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.883-30delC
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.883-30delC
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.289-30delC
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.883-30delC
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*705-30delC
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.913-30delC
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.728-30delC
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.913-30delC
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49383
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: TG
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-46280880-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280880
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280880
    reference: chr 19
allele count: 1
allele frequency: 8.304406317992327e-6
allele num: 120418
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.728-32C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.913-32C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.883-32C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.883-32C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.289-32C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.883-32C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.913-32C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.883-32C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*705-32C>T
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

19-46280883-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280883
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280883
    reference: chr 19
allele count: 3
allele frequency: 2.492563851177321e-5
allele num: 120358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.883-35G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.883-35G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.728-35G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.883-35G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.289-35G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.913-35G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*705-35G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.913-35G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.883-35G>A
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49435
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

19-46280884-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280884
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280884
    reference: chr 19
allele count: 1
allele frequency: 8.303303053954863e-6
allele num: 120434
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.883-36C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.289-36C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.883-36C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*705-36C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.883-36C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.913-36C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.883-36C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.913-36C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.728-36C>T
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS

http://identifiers.org/exac.variant/19-46280890-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280890
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280890
    reference: chr 19
allele count: 10
allele frequency: 8.300821781356355e-5
allele num: 120470
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*704+35G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.288+35G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.912+35G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.882+35G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.912+35G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.882+35G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.727+35G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.882+35G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.882+35G>T
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38707
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

19-46280890-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280890
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280890
    reference: chr 19
allele count: 2
allele frequency: 1.660164356271271e-5
allele num: 120470
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.912+35G>C
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.912+35G>C
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.288+35G>C
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.882+35G>C
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.882+35G>C
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.882+35G>C
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*704+35G>C
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.882+35G>C
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.727+35G>C
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

19-46280891-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280891
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280891
    reference: chr 19
allele count: 37
allele frequency: 3.070029870560902e-4
allele num: 120520
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.288+34C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*704+34C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.912+34C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.912+34C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.882+34C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.882+34C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.727+34C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.882+34C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.882+34C>T
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38742
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 9.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

19-46280898-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280898
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280898
    reference: chr 19
allele count: 1
allele frequency: 8.292148993333113e-6
allele num: 120596
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.882+27C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.912+27C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.727+27C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.288+27C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*704+27C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.882+27C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.882+27C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.912+27C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.882+27C>T
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/19-46280912-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280912
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280912
    reference: chr 19
allele count: 6
allele frequency: 4.972073520393788e-5
allele num: 120674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*704+13G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.912+13G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.882+13G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.882+13G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.288+13G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.882+13G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.882+13G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.727+13G>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.912+13G>T
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5463
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP

19-46280912-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280912
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280912
    reference: chr 19
allele count: 4
allele frequency: 3.314715680262525e-5
allele num: 120674
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.882+13G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.288+13G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.912+13G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.882+13G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.727+13G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*704+13G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.882+13G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.882+13G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.912+13G>A
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16467
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
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: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

19-46280913-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280913
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280913
    reference: chr 19
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.288+12C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.912+12C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.727+12C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.882+12C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.882+12C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.912+12C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*704+12C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.882+12C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.882+12C>T
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

19-46280916-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280916
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280916
    reference: chr 19
allele count: 7
allele frequency: 5.796621397813846e-5
allele num: 120760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*704+9G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.912+9G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.912+9G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.727+9G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.882+9G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.882+9G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.882+9G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.288+9G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.882+9G>A
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff

19-46280917-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280917
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280917
    reference: chr 19
allele count: 714
allele frequency: 5.911672655616089e-3
allele num: 120778
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.912+8C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.882+8C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.882+8C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.912+8C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.288+8C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.882+8C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*704+8C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.727+8C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.882+8C>T
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 3.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16400
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 38614
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.75e1
  variant carriers: 491
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 7.25e1
  variant carriers: 0
hgvs: c.912+8C>T
num of homozygotes: 4
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

19-46280920-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280920
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280920
    reference: chr 19
allele count: 1
allele frequency: 8.277597510098669e-6
allele num: 120808
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.882+5G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*704+5G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.882+5G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.912+5G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.288+5G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.912+5G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.882+5G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.882+5G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.727+5G>A
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
hgvs: c.912+5G>A
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

19-46280933-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280933
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280933
    reference: chr 19
allele count: 1
allele frequency: 8.27348843366317e-6
allele num: 120868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.874C>T
  hgvsp: ENSP00000291270.3:p.His292Tyr
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.280C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.874C>T
  hgvsp: ENSP00000401753.1:p.His292Tyr
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.874C>T
  hgvsp: ENSP00000346168.5:p.His292Tyr
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.874C>T
  hgvsp: ENSP00000413417.1:p.His292Tyr
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.904C>T
  hgvsp: ENSP00000472965.1:p.His302Tyr
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.904C>T
  hgvsp: ENSP00000345997.3:p.His302Tyr
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*696C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.719C>T
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His302Tyr
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-46280941-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280941
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280941
    reference: chr 19
allele count: 1
allele frequency: 8.270477702792114e-6
allele num: 120912
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.866A>C
  hgvsp: ENSP00000413417.1:p.Lys289Thr
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.866A>C
  hgvsp: ENSP00000401753.1:p.Lys289Thr
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.866A>C
  hgvsp: ENSP00000346168.5:p.Lys289Thr
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.711A>C
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*688A>C
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.866A>C
  hgvsp: ENSP00000291270.3:p.Lys289Thr
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.896A>C
  hgvsp: ENSP00000472965.1:p.Lys299Thr
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.896A>C
  hgvsp: ENSP00000345997.3:p.Lys299Thr
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.272A>C
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51265
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys299Thr
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

19-46280947-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280947
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280947
    reference: chr 19
allele count: 2
allele frequency: 1.654177625593436e-5
allele num: 120906
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.860A>G
  hgvsp: ENSP00000291270.3:p.Tyr287Cys
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.266A>G
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.860A>G
  hgvsp: ENSP00000413417.1:p.Tyr287Cys
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.705A>G
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.860A>G
  hgvsp: ENSP00000401753.1:p.Tyr287Cys
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.860A>G
  hgvsp: ENSP00000346168.5:p.Tyr287Cys
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.890A>G
  hgvsp: ENSP00000345997.3:p.Tyr297Cys
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.890A>G
  hgvsp: ENSP00000472965.1:p.Tyr297Cys
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*682A>G
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16863
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51266
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr297Cys
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ

19-46280949-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280949
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280949
    reference: chr 19
allele count: 8
allele frequency: 6.616929413905477e-5
allele num: 120902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.888C>T
  hgvsp: ENST00000600757.1:c.888C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.858C>T
  hgvsp: ENST00000354227.5:c.858C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.858C>T
  hgvsp: ENST00000447742.2:c.858C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.888C>T
  hgvsp: ENST00000343373.4:c.888C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.858C>T
  hgvsp: ENST00000291270.4:c.858C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.858C>T
  hgvsp: ENST00000458663.2:c.858C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.703C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.264C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*680C>T
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr296Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

19-46280955-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280955
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280955
    reference: chr 19
allele count: 6
allele frequency: 4.962450789029675e-5
allele num: 120908
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.697G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.882G>A
  hgvsp: ENST00000600757.1:c.882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*674G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.852G>A
  hgvsp: ENST00000458663.2:c.852G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.852G>A
  hgvsp: ENST00000447742.2:c.852G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.882G>A
  hgvsp: ENST00000343373.4:c.882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.852G>A
  hgvsp: ENST00000291270.4:c.852G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.258G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.852G>A
  hgvsp: ENST00000354227.5:c.852G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000598191
  gene symbol: DMPK
  hgvsc: ENST00000598191.1:n.729G>A
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala294Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

19-46280957-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280957
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280957
    reference: chr 19
allele count: 1
allele frequency: 8.270614506657845e-6
allele num: 120910
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.256G>C
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000598191
  gene symbol: DMPK
  hgvsc: ENST00000598191.1:n.727G>C
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.850G>C
  hgvsp: ENSP00000346168.5:p.Ala284Pro
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.880G>C
  hgvsp: ENSP00000472965.1:p.Ala294Pro
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.850G>C
  hgvsp: ENSP00000413417.1:p.Ala284Pro
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.880G>C
  hgvsp: ENSP00000345997.3:p.Ala294Pro
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.850G>C
  hgvsp: ENSP00000291270.3:p.Ala284Pro
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.850G>C
  hgvsp: ENSP00000401753.1:p.Ala284Pro
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*672G>C
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.695G>C
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala294Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

19-46280958-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280958
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280958
    reference: chr 19
allele count: 1
allele frequency: 8.270477702792114e-6
allele num: 120912
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.849G>A
  hgvsp: ENST00000291270.4:c.849G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.849G>A
  hgvsp: ENST00000458663.2:c.849G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.879G>A
  hgvsp: ENST00000600757.1:c.879G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.255G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.879G>A
  hgvsp: ENST00000343373.4:c.879G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.849G>A
  hgvsp: ENST00000447742.2:c.849G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.849G>A
  hgvsp: ENST00000354227.5:c.849G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000598191
  gene symbol: DMPK
  hgvsc: ENST00000598191.1:n.726G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.694G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*671G>A
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr293Thr
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

19-46280959-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280959
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280959
    reference: chr 19
allele count: 6
allele frequency: 4.962040391008783e-5
allele num: 120918
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.848C>T
  hgvsp: ENSP00000413417.1:p.Thr283Met
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.848C>T
  hgvsp: ENSP00000401753.1:p.Thr283Met
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.878C>T
  hgvsp: ENSP00000472965.1:p.Thr293Met
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.254C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*670C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.878C>T
  hgvsp: ENSP00000345997.3:p.Thr293Met
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.848C>T
  hgvsp: ENSP00000291270.3:p.Thr283Met
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000598191
  gene symbol: DMPK
  hgvsc: ENST00000598191.1:n.725C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.848C>T
  hgvsp: ENSP00000346168.5:p.Thr283Met
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.693C>T
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5557
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr293Met
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

19-46280967-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280967
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280967
    reference: chr 19
allele count: 2
allele frequency: 1.654588173003739e-5
allele num: 120876
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.870G>A
  hgvsp: ENST00000343373.4:c.870G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.840G>A
  hgvsp: ENST00000291270.4:c.840G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.840G>A
  hgvsp: ENST00000458663.2:c.840G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.246G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.840G>A
  hgvsp: ENST00000447742.2:c.840G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000598191
  gene symbol: DMPK
  hgvsc: ENST00000598191.1:n.717G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*662G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.685G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.870G>A
  hgvsp: ENST00000600757.1:c.870G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.840G>A
  hgvsp: ENST00000354227.5:c.840G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala290Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-46280969-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280969
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280969
    reference: chr 19
allele count: 1
allele frequency: 8.27417299640901e-6
allele num: 120858
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.683G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.868G>A
  hgvsp: ENSP00000472965.1:p.Ala290Thr
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.838G>A
  hgvsp: ENSP00000346168.5:p.Ala280Thr
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.838G>A
  hgvsp: ENSP00000413417.1:p.Ala280Thr
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.838G>A
  hgvsp: ENSP00000401753.1:p.Ala280Thr
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.838G>A
  hgvsp: ENSP00000291270.3:p.Ala280Thr
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.244G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000598191
  gene symbol: DMPK
  hgvsc: ENST00000598191.1:n.715G>A
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.868G>A
  hgvsp: ENSP00000345997.3:p.Ala290Thr
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*660G>A
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala290Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ

19-46280970-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280970
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280970
    reference: chr 19
allele count: 2
allele frequency: 1.654944145635085e-5
allele num: 120850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*659C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.837C>T
  hgvsp: ENST00000354227.5:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.837C>T
  hgvsp: ENST00000291270.4:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.867C>T
  hgvsp: ENST00000343373.4:c.867C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.682C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.837C>T
  hgvsp: ENST00000447742.2:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.837C>T
  hgvsp: ENST00000458663.2:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.243C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.867C>T
  hgvsp: ENST00000600757.1:c.867C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000598191
  gene symbol: DMPK
  hgvsc: ENST00000598191.1:n.714C>T
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr289Tyr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

19-46280980-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46280980
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 46280980
    reference: chr 19
allele count: 1
allele frequency: 8.279242283746192e-6
allele num: 120784
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000598191
  gene symbol: DMPK
  hgvsc: ENST00000598191.1:n.704C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000468013
  ensembl transcript: ENST00000588522
  gene symbol: DMPK
  hgvsc: ENST00000588522.1:c.*649C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000345997
  ensembl transcript: ENST00000343373
  gene symbol: DMPK
  hgvsc: ENST00000343373.4:c.857C>T
  hgvsp: ENSP00000345997.3:p.Thr286Met
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000346168
  ensembl transcript: ENST00000354227
  gene symbol: DMPK
  hgvsc: ENST00000354227.5:c.827C>T
  hgvsp: ENSP00000346168.5:p.Thr276Met
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000413417
  ensembl transcript: ENST00000447742
  gene symbol: DMPK
  hgvsc: ENST00000447742.2:c.827C>T
  hgvsp: ENSP00000413417.1:p.Thr276Met
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000596686
  gene symbol: DMPK
  hgvsc: ENST00000596686.1:n.672C>T
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000401753
  ensembl transcript: ENST00000458663
  gene symbol: DMPK
  hgvsc: ENST00000458663.2:c.827C>T
  hgvsp: ENSP00000401753.1:p.Thr276Met
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000472965
  ensembl transcript: ENST00000600757
  gene symbol: DMPK
  hgvsc: ENST00000600757.1:c.857C>T
  hgvsp: ENSP00000472965.1:p.Thr286Met
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104936
  ensembl protein: ENSP00000291270
  ensembl transcript: ENST00000291270
  gene symbol: DMPK
  hgvsc: ENST00000291270.4:c.827C>T
  hgvsp: ENSP00000291270.3:p.Thr276Met
  variant of: http://identifiers.org/hgnc/2933
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104936
  ensembl transcript: ENST00000599002
  gene symbol: DMPK
  hgvsc: ENST00000599002.1:n.233C>T
  variant of: http://identifiers.org/hgnc/2933
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr286Met
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 1280
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1089
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5391
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49952
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527137228551358e-5
allele num: 65482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

MQ
type: SiteQuality
SIO_000300: 5.871e1

FS
type: SiteQuality
SIO_000300: 3.118e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.2e0

QD
type: SiteQuality
SIO_000300: 1.225e1

DP
type: SiteQuality
SIO_000300: 1.415661e6

GenotypeQuality
all individuals: 155
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5356
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1124
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 531
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 9.75e1
variant carriers: 137

GenotypeQuality
all individuals: 1272
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49545
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.252252252252252e-3
allele num: 888
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.603262755987504e-4
allele num: 11524
num of homozygotes: 0

South Asian
type: Population
allele count: 73
allele frequency: 4.426388552025224e-3
allele num: 16492
num of homozygotes: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.164686699277894e-4
allele num: 8586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 58
allele frequency: 8.857395925597874e-4
allele num: 65482
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.838646202282565e-5
allele num: 10164
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.42e-1

QD
type: SiteQuality
SIO_000300: 1.299e1

VQSLOD
type: SiteQuality
SIO_000300: 4.73e0

DP
type: SiteQuality
SIO_000300: 1.420078e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.63e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.128e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

GenotypeQuality
all individuals: 529
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49431
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1273
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5368
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

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

Latino
type: Population
allele count: 22
allele frequency: 1.908396946564885e-3
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10152
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.423e0

VQSLOD
type: SiteQuality
SIO_000300: 3.03e0

QD
type: SiteQuality
SIO_000300: 1.357e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

DP
type: SiteQuality
SIO_000300: 1.415013e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 106
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49544
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1148
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1271
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5364
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 121
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.635686142756788e-5
allele num: 65482
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.846396218983852e-5
allele num: 10156
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.328830926874709e-4
allele num: 8588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 1.414707e6

FS
type: SiteQuality
SIO_000300: 5.22e-1

QD
type: SiteQuality
SIO_000300: 1.417e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQRankSum
type: SiteQuality
SIO_000300: 5.48e-1

GenotypeQuality
all individuals: 55
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1136
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 109
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.05399462496946e-5
allele num: 65488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10144
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.413657e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 2.875e0

MQRankSum
type: SiteQuality
SIO_000300: -1.05e-1

QD
type: SiteQuality
SIO_000300: 1.415e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.8e-1

MQ
type: SiteQuality
SIO_000300: 5.926e1

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1165
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 5362
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1273
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 523
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

Latino
type: Population
allele count: 14
allele frequency: 1.214013180714534e-3
allele num: 11532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65472
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.274e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

DP
type: SiteQuality
SIO_000300: 1.41382e6

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.59e-1

GenotypeQuality
all individuals: 62
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1148
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5363
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1129
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10154
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65472
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.237e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.8e-2

FS
type: SiteQuality
SIO_000300: 1.093e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.328e0

VQSLOD
type: SiteQuality
SIO_000300: 7.88e-1

DP
type: SiteQuality
SIO_000300: 1.412344e6

MQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

GenotypeQuality
all individuals: 1108
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1282
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 5352
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49114
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528164063693878e-5
allele num: 65438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.65e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.526e0

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.54e-1

DP
type: SiteQuality
SIO_000300: 1.412005e6

QD
type: SiteQuality
SIO_000300: 7.92e0

FS
type: SiteQuality
SIO_000300: 4.493e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 363
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 82
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 132
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1119
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49181
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164415463437354e-4
allele num: 8588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65454
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.953e1

DP
type: SiteQuality
SIO_000300: 1.412217e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.55e-1

FS
type: SiteQuality
SIO_000300: 2.368e0

MQRankSum
type: SiteQuality
SIO_000300: 7.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.771e0

QD
type: SiteQuality
SIO_000300: 1.435e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.12e-1

GenotypeQuality
all individuals: 295
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 141
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9998
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65058
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.1441647597254e-3
allele num: 874
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.55e-1

QD
type: SiteQuality
SIO_000300: 4.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.43e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.201e2

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.971e0

FS
type: SiteQuality
SIO_000300: 2.19868e2

DP
type: SiteQuality
SIO_000300: 1.421317e6

GenotypeQuality
all individuals: 1278
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5346
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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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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
all individuals: 523
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variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 9.75e1
variant carriers: 6

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.637686431429611e-4
allele num: 16494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65502
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

DP
type: SiteQuality
SIO_000300: 1.417651e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-1

FS
type: SiteQuality
SIO_000300: 1.751e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.946e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

QD
type: SiteQuality
SIO_000300: 9.9e0

VQSLOD
type: SiteQuality
SIO_000300: 6.94e-1

GenotypeQuality
all individuals: 136
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
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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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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: 121
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variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 18
allele frequency: 2.095947834187238e-3
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.056234718826406e-5
allele num: 65440
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e-1

QD
type: SiteQuality
SIO_000300: 1.308e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.418658e6

GenotypeQuality
all individuals: 214
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
all individuals: 122
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 142
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GenotypeQuality
all individuals: 341
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530502923260583e-5
allele num: 65338
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.14e-1

QD
type: SiteQuality
SIO_000300: 9.73e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.758e0

FS
type: SiteQuality
SIO_000300: 6.275e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.202e-1

DP
type: SiteQuality
SIO_000300: 1.41994e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.71e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 90
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GenotypeQuality
all individuals: 1118
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.068278240698349e-4
allele num: 65526
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10152
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.24345295829292e-4
allele num: 16496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 1.092e0

DP
type: SiteQuality
SIO_000300: 1.421417e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.44e-1

QD
type: SiteQuality
SIO_000300: 1.34e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52587890625e-5
allele num: 65536
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163061177017911e-4
allele num: 8598
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.8405825624877e-5
allele num: 10162
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

QD
type: SiteQuality
SIO_000300: 1.303e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.243e0

DP
type: SiteQuality
SIO_000300: 1.421666e6

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 39
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GenotypeQuality
all individuals: 1284
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525087692542321e-5
allele num: 65570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.063e1

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

MQ
type: SiteQuality
SIO_000300: 5.893e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.422273e6

FS
type: SiteQuality
SIO_000300: 5.228e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.692e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.17e-1

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 249
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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: 1052
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GenotypeQuality
all individuals: 181
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variant carriers: 1

GenotypeQuality
all individuals: 510
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.73e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.361e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.422932e6

QD
type: SiteQuality
SIO_000300: 1.169e1

GenotypeQuality
all individuals: 121
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523229246001523e-5
allele num: 65650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16480
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.522e0

VQSLOD
type: SiteQuality
SIO_000300: -1.839e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.309e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e0

FS
type: SiteQuality
SIO_000300: 1.2227e1

MQRankSum
type: SiteQuality
SIO_000300: -1.011e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
SIO_000300: 1.39e1

DP
type: SiteQuality
SIO_000300: 1.423373e6

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.324500232450023e-4
allele num: 8604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.04627288512505e-5
allele num: 65654
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.566585956416465e-4
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.093e0

MQRankSum
type: SiteQuality
SIO_000300: -3.77e-1

QD
type: SiteQuality
SIO_000300: 1.318e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.82e-1

DP
type: SiteQuality
SIO_000300: 1.42386e6

FS
type: SiteQuality
SIO_000300: 5.27e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.046087300862043e-5
allele num: 65658
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

DP
type: SiteQuality
SIO_000300: 1.423656e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.51e1

GenotypeQuality
all individuals: 3
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522487134983709e-5
allele num: 65682
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.23e-1

DP
type: SiteQuality
SIO_000300: 1.423813e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.632e0

VQSLOD
type: SiteQuality
SIO_000300: 3.57e-1

QD
type: SiteQuality
SIO_000300: 1.155e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.979e0

GenotypeQuality
all individuals: 1031
bin: 2.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.513317191283293e-4
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65692
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.05e0

VQSLOD
type: SiteQuality
SIO_000300: -1.49e-2

FS
type: SiteQuality
SIO_000300: 7.257e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-1

QD
type: SiteQuality
SIO_000300: 1.317e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162520344106022e-4
allele num: 8602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65692
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
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Other
type: Population
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allele frequency: 0.0e0
allele num: 896
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Latino
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allele frequency: 0.0e0
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South Asian
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QD
type: SiteQuality
SIO_000300: 1.317e1

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-1

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

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

East Asian
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allele count: 0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10180
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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 count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.565098301783432e-5
allele num: 65716
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.2477e1

InbreedingCoeff
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MQRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQ
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 4.260888090817786e-4
allele num: 65714
num of homozygotes: 0

Other
type: Population
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allele num: 896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.259e1

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5325
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1260
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49832
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65734
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.732801940738174e-4
allele num: 11542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.982e1

QD
type: SiteQuality
SIO_000300: 2.681e1

MQRankSum
type: SiteQuality
SIO_000300: 4.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

VQSLOD
type: SiteQuality
SIO_000300: -2.698e0

FS
type: SiteQuality
SIO_000300: 2.1343e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.49e-1

DP
type: SiteQuality
SIO_000300: 1.424907e6

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65804
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

FS
type: SiteQuality
SIO_000300: 6.459e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.68e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.434e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e0

QD
type: SiteQuality
SIO_000300: 1.001e1

DP
type: SiteQuality
SIO_000300: 1.42341e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

GenotypeQuality
all individuals: 57
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
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variant carriers: 0

GenotypeQuality
all individuals: 5231
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1049
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1251
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1098
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.218026796589525e-4
allele num: 16420
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.152e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 8.24e-1

QD
type: SiteQuality
SIO_000300: 1.493e1

MQRankSum
type: SiteQuality
SIO_000300: 3.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.22e-1

DP
type: SiteQuality
SIO_000300: 1.421986e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
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variant carriers: 0

GenotypeQuality
all individuals: 1051
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
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variant carriers: 0

GenotypeQuality
all individuals: 1251
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variant carriers: 0

GenotypeQuality
all individuals: 250
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 504
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variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 124
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49008
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.038867110341265e-5
allele num: 65814
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.092360180333861e-5
allele num: 16414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

FS
type: SiteQuality
SIO_000300: 1.797e0

DP
type: SiteQuality
SIO_000300: 1.422602e6

MQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.48e1

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

GenotypeQuality
all individuals: 420
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 509
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variant carriers: 0

GenotypeQuality
all individuals: 489
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variant carriers: 0

GenotypeQuality
all individuals: 48781
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1096
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 262
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variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1231
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65748
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16198001394376e-4
allele num: 8606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.664e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e0

VQSLOD
type: SiteQuality
SIO_000300: -1.853e-1

FS
type: SiteQuality
SIO_000300: 5.193e0

DP
type: SiteQuality
SIO_000300: 1.423375e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 1.379e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

GenotypeQuality
all individuals: 498
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48680
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
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variant carriers: 0

GenotypeQuality
all individuals: 43
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GenotypeQuality
all individuals: 1240
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variant carriers: 0

GenotypeQuality
all individuals: 200
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variant carriers: 0

GenotypeQuality
all individuals: 5267
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 1064
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 1099
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.73190162798753e-4
allele num: 11548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.075334143377886e-5
allele num: 65840
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 2.549e0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
SIO_000300: -2.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

QD
type: SiteQuality
SIO_000300: 1.298e1

DP
type: SiteQuality
SIO_000300: 1.422686e6

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 1044
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
all individuals: 239
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 467
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49090
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65890
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.647920055775041e-4
allele num: 8606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 1.778e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.080000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.423173e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.715e0

MQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

QD
type: SiteQuality
SIO_000300: 1.194e1

MQ
type: SiteQuality
SIO_000300: 5.927e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

GenotypeQuality
all individuals: 395
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1025
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
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GenotypeQuality
all individuals: 123
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GenotypeQuality
all individuals: 505
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GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 28
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GenotypeQuality
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GenotypeQuality
all individuals: 42
bin: 1.75e1
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GenotypeQuality
all individuals: 1089
bin: 7.75e1
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GenotypeQuality
all individuals: 214
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.75e1
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GenotypeQuality
all individuals: 49125
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5258
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 3
allele frequency: 3.355704697986577e-3
allele num: 894
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.552213893356803e-5
allele num: 65902
num of homozygotes: 0

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

South Asian
type: Population
allele count: 39
allele frequency: 2.379499694935937e-3
allele num: 16390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.95e-1

FS
type: SiteQuality
SIO_000300: 1.137e0

VQSLOD
type: SiteQuality
SIO_000300: 4.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

MQ
type: SiteQuality
SIO_000300: 5.983e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e-1

QD
type: SiteQuality
SIO_000300: 1.395e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.85e-1

DP
type: SiteQuality
SIO_000300: 1.431126e6

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

GenotypeQuality
all individuals: 1089
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.25e1
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GenotypeQuality
all individuals: 450
bin: 3.25e1
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GenotypeQuality
all individuals: 144
bin: 5.25e1
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GenotypeQuality
all individuals: 80
bin: 5.75e1
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GenotypeQuality
all individuals: 1025
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1238
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49125
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5258
bin: 6.75e1
variant carriers: 1

African
type: Population
allele count: 112
allele frequency: 1.096319498825372e-2
allele num: 10216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.069618524475737e-5
allele num: 65902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.537205081669691e-4
allele num: 6612
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.118568232662192e-3
allele num: 894
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.597852441981296e-4
allele num: 11548
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.85e-1

DP
type: SiteQuality
SIO_000300: 1.431126e6

QD
type: SiteQuality
SIO_000300: 1.395e1

FS
type: SiteQuality
SIO_000300: 1.137e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.42e0

GenotypeQuality
all individuals: 406
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5286
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1096
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1238
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 241
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 510
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51666818333485e-5
allele num: 65934
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.374e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.757e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.53e-1

QD
type: SiteQuality
SIO_000300: 1.168e1

VQSLOD
type: SiteQuality
SIO_000300: 7.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.42426e6

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5287
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1241
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49147
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 126
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.819339579732557e-4
allele num: 65958
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.325e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.633e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.42472e6

GenotypeQuality
all individuals: 418
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1227
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48962
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5278
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516346212167162e-5
allele num: 65948
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.119e0

QD
type: SiteQuality
SIO_000300: 1.383e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.949e1

MQRankSum
type: SiteQuality
SIO_000300: 8.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.323e0

FS
type: SiteQuality
SIO_000300: 4.798e0

DP
type: SiteQuality
SIO_000300: 1.42495e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

GenotypeQuality
all individuals: 469
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1226
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1099
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5275
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49050
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 347
bin: 3.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66014
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.161170459823502e-4
allele num: 8612
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.425734e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 6.870000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.64e-1

QD
type: SiteQuality
SIO_000300: 1.441e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.612e0

MQRankSum
type: SiteQuality
SIO_000300: -1.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48669
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5257
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.029660375071954e-5
allele num: 66014
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.03e-1

FS
type: SiteQuality
SIO_000300: 5.23e0

VQSLOD
type: SiteQuality
SIO_000300: 6.41e-1

QD
type: SiteQuality
SIO_000300: 1.233e1

DP
type: SiteQuality
SIO_000300: 1.425489e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.534e0

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1224
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515013786625458e-5
allele num: 66006
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.285e1

VQSLOD
type: SiteQuality
SIO_000300: 3.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.425864e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e-1

GenotypeQuality
all individuals: 506
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5279
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48999
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66024
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.387e1

DP
type: SiteQuality
SIO_000300: 1.426582e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e0

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.98e1

FS
type: SiteQuality
SIO_000300: 1.832e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.01e-1

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.75e1
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GenotypeQuality
all individuals: 357
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1081
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1226
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 7.5e0
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GenotypeQuality
all individuals: 48911
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.765625000000001e-5
allele num: 10240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.029843963035904e-5
allele num: 66010
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.551e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: 8.5e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 4.59e-1

DP
type: SiteQuality
SIO_000300: 1.428131e6

QD
type: SiteQuality
SIO_000300: 1.215e1

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

GenotypeQuality
all individuals: 183
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5290
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48969
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66024
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.481086098862845e-4
allele num: 8618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16364
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.76e-1

FS
type: SiteQuality
SIO_000300: 1.145e0

DP
type: SiteQuality
SIO_000300: 1.428447e6

QD
type: SiteQuality
SIO_000300: 1.434e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.7e-1

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 7.5e0
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 49022
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variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514279657167086e-5
allele num: 66038
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: 11550
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16346
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.88e-1

FS
type: SiteQuality
SIO_000300: 2.304e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.2e0

MQRankSum
type: SiteQuality
SIO_000300: -6.66e-1

DP
type: SiteQuality
SIO_000300: 1.430018e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.89e-1

QD
type: SiteQuality
SIO_000300: 1.33e1

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1103
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 1233
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.744689144416293e-5
allele num: 10262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.567960283344433e-5
allele num: 66068
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: 7
allele frequency: 6.061655697956356e-4
allele num: 11548
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.21e-1

DP
type: SiteQuality
SIO_000300: 1.432035e6

QD
type: SiteQuality
SIO_000300: 1.422e1

FS
type: SiteQuality
SIO_000300: 5.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.67e0

MQ
type: SiteQuality
SIO_000300: 6.021e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.73e-1

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
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variant carriers: 0

GenotypeQuality
all individuals: 76
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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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variant carriers: 0

GenotypeQuality
all individuals: 1234
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variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66080
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.981999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.316e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.104e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.432423e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.478e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.538e1

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

GenotypeQuality
all individuals: 122
bin: 9.25e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66060
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.479471120389701e-4
allele num: 8622
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16346
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.06e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.06e0

QD
type: SiteQuality
SIO_000300: 1.491e1

VQSLOD
type: SiteQuality
SIO_000300: 8.03e-1

FS
type: SiteQuality
SIO_000300: 9.63e-1

DP
type: SiteQuality
SIO_000300: 1.433613e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

GenotypeQuality
all individuals: 131
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 9.75e1
variant carriers: 1

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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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: 245
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variant carriers: 0

GenotypeQuality
all individuals: 49685
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
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: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51336299524804e-5
allele num: 66078
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.348e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-1

DP
type: SiteQuality
SIO_000300: 1.434126e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.988e1

VQSLOD
type: SiteQuality
SIO_000300: -2.58e0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

FS
type: SiteQuality
SIO_000300: 1.734e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 512
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variant carriers: 0

GenotypeQuality
all individuals: 1238
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66110
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
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: 11554
num of homozygotes: 0

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

African
type: Population
allele count: 10
allele frequency: 9.727626459143969e-4
allele num: 10280
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

FS
type: SiteQuality
SIO_000300: 5.620000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.342e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

DP
type: SiteQuality
SIO_000300: 1.438521e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 670
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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: 192
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variant carriers: 2

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66110
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.731002250302925e-4
allele num: 11554
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

QD
type: SiteQuality
SIO_000300: 1.342e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

FS
type: SiteQuality
SIO_000300: 5.620000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

DP
type: SiteQuality
SIO_000300: 1.438521e6

MQ
type: SiteQuality
SIO_000300: 5.987e1

GenotypeQuality
all individuals: 145
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 8
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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: 58
bin: 5.75e1
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GenotypeQuality
all individuals: 50099
bin: 6.25e1
variant carriers: 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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66130
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.089392278650591e-5
allele num: 16422
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.731002250302925e-4
allele num: 11554
num of homozygotes: 0

African
type: Population
allele count: 33
allele frequency: 3.208868144690782e-3
allele num: 10284
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.435e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.85e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.91e0

VQSLOD
type: SiteQuality
SIO_000300: 4.82e0

FS
type: SiteQuality
SIO_000300: 1.201e0

DP
type: SiteQuality
SIO_000300: 1.441416e6

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

GenotypeQuality
all individuals: 121
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 227
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50416
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5417
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 151
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
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: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66160
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.440856e6

FS
type: SiteQuality
SIO_000300: 3.429e0

VQSLOD
type: SiteQuality
SIO_000300: -1.099e0

MQRankSum
type: SiteQuality
SIO_000300: -2.259e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.659e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

QD
type: SiteQuality
SIO_000300: 1.296e1

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

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 106
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50642
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66216
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.192107995846313e-4
allele num: 11556
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

FS
type: SiteQuality
SIO_000300: 1.855e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

QD
type: SiteQuality
SIO_000300: 1.213e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.27e0

DP
type: SiteQuality
SIO_000300: 1.447078e6

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50642
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5463
bin: 6.75e1
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: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510209012927389e-5
allele num: 66216
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.822600243013366e-4
allele num: 16460
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.27e0

DP
type: SiteQuality
SIO_000300: 1.447078e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

FS
type: SiteQuality
SIO_000300: 1.855e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.213e1

GenotypeQuality
all individuals: 419
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 109
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1254
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 145
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 519
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5494
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50843
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.704968944099378e-5
allele num: 10304
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
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: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66240
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

FS
type: SiteQuality
SIO_000300: 4.777e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.425e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

QD
type: SiteQuality
SIO_000300: 2.661e1

DP
type: SiteQuality
SIO_000300: 1.44658e6

VQSLOD
type: SiteQuality
SIO_000300: -2.251e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

GenotypeQuality
all individuals: 190
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1131
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5506
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50935
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.478664192949907e-4
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66264
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.426301103967002e-4
allele num: 16486
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: 902
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 1.448705e6

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

FS
type: SiteQuality
SIO_000300: 5.51e-1

QD
type: SiteQuality
SIO_000300: 1.335e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50579
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 9.75e1
variant carriers: 710

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1082
bin: 7.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 5430
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 114
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 19
allele frequency: 1.841799146956185e-3
allele num: 10316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 293
allele frequency: 4.420906512161265e-3
allele num: 66276
num of homozygotes: 0

South Asian
type: Population
allele count: 292
allele frequency: 1.770770163735597e-2
allele num: 16490
num of homozygotes: 4

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

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

Other
type: Population
allele count: 5
allele frequency: 5.555555555555556e-3
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 96
allele frequency: 8.307372793354102e-3
allele num: 11556
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 1.519262e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.99e-2

QD
type: SiteQuality
SIO_000300: 1.332e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51090
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 508
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5548
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508477644361311e-5
allele num: 66292
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.024e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.353e1

MQRankSum
type: SiteQuality
SIO_000300: 8.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.452965e6

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 319
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5544
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51199
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1118
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.67e0

VQSLOD
type: SiteQuality
SIO_000300: -3.145e0

FS
type: SiteQuality
SIO_000300: 2.597e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.792e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.454595e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66360
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.165e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.93e1

DP
type: SiteQuality
SIO_000300: 1.455067e6

VQSLOD
type: SiteQuality
SIO_000300: 4.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 5.173e0

QD
type: SiteQuality
SIO_000300: 1.14e1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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: 11558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.013954609843576e-5
allele num: 66358
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.79e-1

DP
type: SiteQuality
SIO_000300: 1.455147e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 3.586e0

QD
type: SiteQuality
SIO_000300: 1.299e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66356
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 6.765899864682003e-4
allele num: 10346
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

QD
type: SiteQuality
SIO_000300: 1.333e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.661e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.33e-1

DP
type: SiteQuality
SIO_000300: 1.456113e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506886471173262e-5
allele num: 66362
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: 900
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.933114247052001e-4
allele num: 10346
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817741153659719e-4
allele num: 16504
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

QD
type: SiteQuality
SIO_000300: 1.365e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

DP
type: SiteQuality
SIO_000300: 1.455885e6

GenotypeQuality
all individuals: 506
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506704836522525e-5
allele num: 66370
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.134e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
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SIO_000300: 2.12e0

MQRankSum
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BaseQRankSum
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SIO_000300: -1.203e0

DP
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.76e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506750241080039e-5
allele num: 66368
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.328e0

DP
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.013228071232712e-5
allele num: 66374
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.423654871546292e-4
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.25e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507431637975218e-5
allele num: 66338
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.0e-3

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.241e1

FS
type: SiteQuality
SIO_000300: 1.104e0

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

GenotypeQuality
all individuals: 189
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5553
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51153
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1275
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.671179883945841e-5
allele num: 10340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

FS
type: SiteQuality
SIO_000300: 5.819e0

DP
type: SiteQuality
SIO_000300: 1.454534e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.048e0

VQSLOD
type: SiteQuality
SIO_000300: 3.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.014e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

QD
type: SiteQuality
SIO_000300: 9.210000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 353
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5552
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1274
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.01559060341968e-5
allele num: 66322
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.355e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.067e0

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQ
type: SiteQuality
SIO_000300: 5.898e1

DP
type: SiteQuality
SIO_000300: 1.454726e6

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1107
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1266
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0