1-214501082-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214501082
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214501082
    reference: chr 1
allele count: 1223
allele frequency: 1.00855997756923e-2
allele num: 121262
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.231+15A>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.835+15A>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.674+15A>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.705+15A>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.858+15A>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.705+15A>G
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6909
  bin: 3.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 20096
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3670
  bin: 4.25e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 17123
  bin: 3.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 5.25e1
  variant carriers: 139
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 4.75e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.75e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 6.25e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.75e1
  variant carriers: 115
genotype quality: GenotypeQuality
  all individuals: 25878
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3159
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4573
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 62
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

1-214501085-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214501085
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214501085
    reference: chr 1
allele count: 17
allele frequency: 1.402547686621345e-4
allele num: 121208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.705+18G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.705+18G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.858+18G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.835+18G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.674+18G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.231+18G>A
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17280
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9995
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4667
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25907
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

1-214501087-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214501087
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214501087
    reference: chr 1
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.231+20T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.705+20T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.858+20T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.705+20T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.674+20T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.835+20T>C
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4654
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8814
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

1-214501095-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214501095
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214501095
    reference: chr 1
allele count: 1
allele frequency: 8.264736024331383e-6
allele num: 120996
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.705+28G>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.231+28G>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.705+28G>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.858+28G>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.835+28G>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.674+28G>T
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24599
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9419
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3154
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3441
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

1-214501103-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214501103
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214501103
    reference: chr 1
allele count: 1
allele frequency: 8.289674381590291e-6
allele num: 120632
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.858+36C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.674+36C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.705+36C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.835+36C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.231+36C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.705+36C>T
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6082
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8753
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

1-214501113-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214501113
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214501113
    reference: chr 1
allele count: 1
allele frequency: 8.340840089413805e-6
allele num: 119892
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.674+46C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.705+46C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.835+46C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.231+46C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.705+46C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.858+46C>T
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7496
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8729
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3621
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13945
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2770
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

1-214503464-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503464
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503464
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 89708
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.706-47G>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.706-47G>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.836-47G>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.232-47G>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.859-47G>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.675-47G>T
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11993
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

1-214503466-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503466
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503466
    reference: chr 1
allele count: 1
allele frequency: 1.11019828141306e-5
allele num: 90074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.675-45G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.232-45G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.859-45G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.706-45G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.706-45G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.836-45G>A
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 13521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2908
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

1-214503477-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503477
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503477
    reference: chr 1
allele count: 4
allele frequency: 4.380969070358364e-5
allele num: 91304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.836-34G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.232-34G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.706-34G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.706-34G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.859-34G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.675-34G>A
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19752
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8311
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5394
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6626
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13972
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8759
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

1-214503479-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503479
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503479
    reference: chr 1
allele count: 2
allele frequency: 2.169150343810329e-5
allele num: 92202
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.836-32A>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.706-32A>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.706-32A>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.232-32A>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.859-32A>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.675-32A>G
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18887
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7082
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8399
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5990
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11288
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

1-214503481-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503481
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503481
    reference: chr 1
allele count: 1
allele frequency: 1.078795201518944e-5
allele num: 92696
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.706-30A>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.836-30A>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.232-30A>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.859-30A>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.706-30A>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.675-30A>T
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18054
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14468
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1756
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12978
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8056
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-214503485-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503485
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503485
    reference: chr 1
allele count: 695
allele frequency: 7.355898478016977e-3
allele num: 94482
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.706-26A>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.836-26A>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.706-26A>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.859-26A>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.675-26A>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.232-26A>C
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18096
  bin: 2.25e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15565
  bin: 1.25e1
  variant carriers: 262
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 1.75e1
  variant carriers: 227
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12569
  bin: 7.5e0
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 2.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 8.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 17244
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 13910
  bin: 2.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 4129
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 7.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6751
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4771
  bin: 9.75e1
  variant carriers: 703
num of homozygotes: 22
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

1-214503488-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503488
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503489
    reference: chr 1
allele count: 1
allele frequency: 1.044015701996158e-5
allele num: 95784
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.836-20dupT
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.706-20dupT
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.859-20dupT
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.675-20dupT
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.232-20dupT
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.706-20dupT
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11959
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3358
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13283
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3995
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5806
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

1-214503488-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503488
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503488
    reference: chr 1
allele count: 18
allele frequency: 1.879228263593084e-4
allele num: 95784
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.836-23C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.706-23C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.675-23C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.859-23C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.706-23C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.232-23C>T
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21622
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13317
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 11959
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20533
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4113
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 3995
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3358
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5806
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13283
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD

1-214503489-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503489
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503489
    reference: chr 1
allele count: 1
allele frequency: 9.031791907514451e-6
allele num: 110720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.232-22T>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.706-22T>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.675-22T>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.836-22T>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.706-22T>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.859-22T>A
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11614
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6646
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1968
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-214503489-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503489
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503489
    reference: chr 1
allele count: 63062
allele frequency: 5.695628612716763e-1
allele num: 110720
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.232-22T>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.859-22T>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.836-22T>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.706-22T>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.706-22T>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.675-22T>G
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 261
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.25e1
  variant carriers: 298
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.75e1
  variant carriers: 654
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 344
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 3.25e1
  variant carriers: 3490
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.25e1
  variant carriers: 463
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 3.75e1
  variant carriers: 1663
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 15386
  bin: 2.25e1
  variant carriers: 10476
genotype depth: GenotypeDepth
  all individuals: 9287
  bin: 1.25e1
  variant carriers: 6703
genotype depth: GenotypeDepth
  all individuals: 8001
  bin: 2.75e1
  variant carriers: 6874
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 9.75e1
  variant carriers: 1404
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 7.5e0
  variant carriers: 1681
genotype depth: GenotypeDepth
  all individuals: 11614
  bin: 1.75e1
  variant carriers: 10848
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.75e1
  variant carriers: 321
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.25e1
  variant carriers: 195
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.75e1
  variant carriers: 253
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 406
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 4.25e1
  variant carriers: 982
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 268
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 7.75e1
  variant carriers: 1303
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 7.25e1
  variant carriers: 850
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 3.25e1
  variant carriers: 952
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.5e0
  variant carriers: 118
genotype quality: GenotypeQuality
  all individuals: 1968
  bin: 5.25e1
  variant carriers: 1802
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 2.25e1
  variant carriers: 479
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 1.75e1
  variant carriers: 288
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 9.25e1
  variant carriers: 774
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 6.75e1
  variant carriers: 1554
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 4.75e1
  variant carriers: 1660
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 3.75e1
  variant carriers: 1241
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 5.75e1
  variant carriers: 982
genotype quality: GenotypeQuality
  all individuals: 31258
  bin: 9.75e1
  variant carriers: 30799
num of homozygotes: 17575
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

1-214503500-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503500
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503500
    reference: chr 1
allele count: 1
allele frequency: 8.759482139415918e-6
allele num: 114162
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.706-11G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.859-11G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.706-11G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.836-11G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.675-11G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.232-11G>A
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12783
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3018
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2985
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3806
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33686
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/1-214503503-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503503
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503503
    reference: chr 1
allele count: 73
allele frequency: 6.356005990317974e-4
allele num: 114852
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.232-8C>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.706-8C>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.859-8C>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.675-8C>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.836-8C>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.706-8C>A
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5856
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 28454
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13303
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3043
  bin: 9.75e1
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37020
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3454
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 3.25e1
  variant carriers: 0
hgvs: c.706-8C>A
num of homozygotes: 2
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

1-214503503-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503503
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503503
    reference: chr 1
allele count: 1
allele frequency: 8.706857520983527e-6
allele num: 114852
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.706-8C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.232-8C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.706-8C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.836-8C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.859-8C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.675-8C>T
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5856
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3454
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37020
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3043
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4150
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
hgvs: c.706-8C>T
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

1-214503504-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503504
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503504
    reference: chr 1
allele count: 1
allele frequency: 8.686889745995344e-6
allele num: 115116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.859-7C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.675-7C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.836-7C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.232-7C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.706-7C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.706-7C>T
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 200
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genotype depth: GenotypeDepth
  all individuals: 618
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genotype depth: GenotypeDepth
  all individuals: 148
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genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 29213
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genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 149
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 502
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genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 38058
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4159
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
hgvs: c.706-7C>T
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-214503505-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503505
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503505
    reference: chr 1
allele count: 1
allele frequency: 8.662508662508662e-6
allele num: 115440
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.706-6C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.706-6C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.232-6C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
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  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.859-6C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.836-6C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.675-6C>T
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
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genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 251
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genotype depth: GenotypeDepth
  all individuals: 201
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genotype depth: GenotypeDepth
  all individuals: 2969
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genotype depth: GenotypeDepth
  all individuals: 856
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genotype depth: GenotypeDepth
  all individuals: 5092
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genotype depth: GenotypeDepth
  all individuals: 29892
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genotype depth: GenotypeDepth
  all individuals: 478
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genotype depth: GenotypeDepth
  all individuals: 2809
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 208
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genotype depth: GenotypeDepth
  all individuals: 317
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genotype depth: GenotypeDepth
  all individuals: 145
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 618
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genotype quality: GenotypeQuality
  all individuals: 344
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 922
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4225
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genotype quality: GenotypeQuality
  all individuals: 2981
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genotype quality: GenotypeQuality
  all individuals: 2171
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genotype quality: GenotypeQuality
  all individuals: 3191
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
hgvs: c.706-6C>T
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS

1-214503506-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503506
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503506
    reference: chr 1
allele count: 1
allele frequency: 8.648873051841344e-6
allele num: 115622
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.706-5C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.859-5C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.706-5C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.836-5C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.675-5C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.232-5C>T
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2666
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 251
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genotype depth: GenotypeDepth
  all individuals: 13859
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 201
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 618
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2036
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 27
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  variant carriers: 0
hgvs: c.706-5C>T
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP

1-214503508-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503508
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503508
    reference: chr 1
allele count: 2
allele frequency: 1.718301630668248e-5
allele num: 116394
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.706-3T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.859-3T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.836-3T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.706-3T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.232-3T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.675-3T>C
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 1.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1622
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  variant carriers: 0
hgvs: c.706-3T>C
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-214503514-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503514
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503514
    reference: chr 1
allele count: 2
allele frequency: 1.702881275117499e-5
allele num: 117448
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.862T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.709T>C
  hgvsp: ENSP00000388682.2:p.Phe237Leu
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.709T>C
  hgvsp: ENSP00000355924.5:p.Phe237Leu
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.235T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.839T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.678T>C
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34108
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44316
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4566
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Phe237Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum

1-214503525-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503525
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503525
    reference: chr 1
allele count: 1
allele frequency: 8.418075291265404e-6
allele num: 118792
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.720T>C
  hgvsp: ENST00000366957.5:c.720T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.689T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.720T>C
  hgvsp: ENST00000415093.2:c.720T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.246T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.873T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.850T>C
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4715
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr240Tyr
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

1-214503531-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503531
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503531
    reference: chr 1
allele count: 1
allele frequency: 8.380965151946898e-6
allele num: 119318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.856T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.726T>C
  hgvsp: ENST00000366957.5:c.726T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.726T>C
  hgvsp: ENST00000415093.2:c.726T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.879T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.252T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.695T>C
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4749
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47321
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp242Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

1-214503535-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503535
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503535
    reference: chr 1
allele count: 1
allele frequency: 8.360924383799873e-6
allele num: 119604
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.699C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.860C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.883C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.256C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.730C>T
  hgvsp: ENST00000366957.5:c.730C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.730C>T
  hgvsp: ENST00000415093.2:c.730C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47499
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu244Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

1-214503545-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503545
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503545
    reference: chr 1
allele count: 6
allele frequency: 4.992511233150274e-5
allele num: 120180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.266C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.870C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.709C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.740C>T
  hgvsp: ENSP00000355924.5:p.Thr247Met
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.740C>T
  hgvsp: ENSP00000388682.2:p.Thr247Met
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.893C>T
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4824
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr247Met
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

1-214503546-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503546
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503546
    reference: chr 1
allele count: 1
allele frequency: 8.319744417451495e-6
allele num: 120196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.741G>A
  hgvsp: ENST00000415093.2:c.741G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.741G>A
  hgvsp: ENST00000366957.5:c.741G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.894G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.267G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.710G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.871G>A
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36093
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr247Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

1-214503546-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503546
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503546
    reference: chr 1
allele count: 1
allele frequency: 8.319744417451495e-6
allele num: 120196
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.267G>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.710G>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.741G>C
  hgvsp: ENST00000415093.2:c.741G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.894G>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.741G>C
  hgvsp: ENST00000366957.5:c.741G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.871G>C
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4833
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr247Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

1-214503552-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503552
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503552
    reference: chr 1
allele count: 2
allele frequency: 1.662482751741451e-5
allele num: 120302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.747T>C
  hgvsp: ENST00000415093.2:c.747T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.747T>C
  hgvsp: ENST00000366957.5:c.747T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.877T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.900T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.273T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.716T>C
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48293
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp249Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-214503562-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503562
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503562
    reference: chr 1
allele count: 2
allele frequency: 1.664225802156837e-5
allele num: 120176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.757C>T
  hgvsp: ENSP00000388682.2:p.Arg253Trp
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.910C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.887C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.726C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.757C>T
  hgvsp: ENSP00000355924.5:p.Arg253Trp
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.283C>T
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4823
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg253Trp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

1-214503563-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503563
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503563
    reference: chr 1
allele count: 8
allele frequency: 6.657789613848202e-5
allele num: 120160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.888G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.284G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.727G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.758G>A
  hgvsp: ENSP00000355924.5:p.Arg253Gln
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.758G>A
  hgvsp: ENSP00000388682.2:p.Arg253Gln
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.911G>A
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35550
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg253Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

1-214503579-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503579
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503579
    reference: chr 1
allele count: 1
allele frequency: 8.403785064793184e-6
allele num: 118994
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.774T>A
  hgvsp: ENSP00000388682.2:p.Tyr258Ter
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.300T>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.743T>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.904T>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.927T>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.774T>A
  hgvsp: ENSP00000355924.5:p.Tyr258Ter
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46257
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr258Ter
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

1-214503587-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503587
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503587
    reference: chr 1
allele count: 1
allele frequency: 8.49213628180305e-6
allele num: 117756
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.782C>T
  hgvsp: ENSP00000355924.5:p.Thr261Ile
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.308C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.912C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.782C>T
  hgvsp: ENSP00000388682.2:p.Thr261Ile
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.751C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.935C>T
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4600
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr261Ile
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD

1-214503591-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503591
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503591
    reference: chr 1
allele count: 1
allele frequency: 8.521952549768203e-6
allele num: 117344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.939T>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.312T>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.755T>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.786T>G
  hgvsp: ENSP00000388682.2:p.Cys262Trp
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.786T>G
  hgvsp: ENSP00000355924.5:p.Cys262Trp
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.916T>G
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2971
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44070
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3502
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys262Trp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

1-214503600-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503600
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503600
    reference: chr 1
allele count: 1
allele frequency: 8.653663095588363e-6
allele num: 115558
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.795G>T
  hgvsp: ENSP00000388682.2:p.Gln265His
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.925G>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.764G>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.795G>T
  hgvsp: ENSP00000355924.5:p.Gln265His
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.948G>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.321G>T
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5096
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41754
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln265His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD

1-214503604-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503604
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503604
    reference: chr 1
allele count: 1
allele frequency: 8.733166820952613e-6
allele num: 114506
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.768T>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.799T>G
  hgvsp: ENSP00000355924.5:p.Cys267Gly
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.325T>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.799T>G
  hgvsp: ENSP00000388682.2:p.Cys267Gly
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.952T>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.929T>G
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4048
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Cys267Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-214503622-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503622
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503621
    reference: chr 1
allele count: 1
allele frequency: 9.365225046357864e-6
allele num: 106778
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+2delT
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.816+2delT
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.785+2delT
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.342+2delT
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.969+2delT
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.946+2delT
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7023
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2965
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13903
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3045
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2939
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
hgvs: c.816+2delT
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: GT
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

1-214503631-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503631
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503631
    reference: chr 1
allele count: 4
allele frequency: 3.888705255585153e-5
allele num: 102862
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.785+10T>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+10T>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.816+10T>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.969+10T>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.342+10T>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.946+10T>G
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13796
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10300
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4187
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20965
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18031
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

1-214503635-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503635
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503635
    reference: chr 1
allele count: 5
allele frequency: 4.95059308105111e-5
allele num: 100998
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.342+14T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.816+14T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+14T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.946+14T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.785+14T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.969+14T>C
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11107
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5455
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2687
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2967
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 19609
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
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genotype quality: GenotypeQuality
  all individuals: 4843
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/1-214503646-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503646
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503646
    reference: chr 1
allele count: 1
allele frequency: 1.048767697954903e-5
allele num: 95350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+25C>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.946+25C>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.342+25C>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.816+25C>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.969+25C>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.785+25C>A
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23632
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2961
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 339
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9740
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7473
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 6074
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

1-214503646-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503646
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503646
    reference: chr 1
allele count: 3
allele frequency: 3.146303093864709e-5
allele num: 95350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+25C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.816+25C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.946+25C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.342+25C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.785+25C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.969+25C>T
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9740
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6074
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2961
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3972
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

1-214503647-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503647
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503647
    reference: chr 1
allele count: 5
allele frequency: 5.290669375489387e-5
allele num: 94506
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.342+26G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.969+26G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.816+26G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.946+26G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+26G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.785+26G>A
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6691
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23822
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4001
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6091
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2964
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

1-214503654-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503654
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503654
    reference: chr 1
allele count: 6
allele frequency: 6.529972574115189e-5
allele num: 91884
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+33G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.816+33G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.342+33G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.969+33G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.785+33G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.946+33G>A
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24150
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8952
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6426
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2962
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8252
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20623
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-214503666-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503666
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503666
    reference: chr 1
allele count: 2
allele frequency: 2.350341974757327e-5
allele num: 85094
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.816+45C>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.946+45C>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+45C>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.969+45C>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.785+45C>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.342+45C>A
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21917
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15308
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10629
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2909
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5454
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8461
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3671
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17077
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6313
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

1-214503669-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503669
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503669
    reference: chr 1
allele count: 1
allele frequency: 1.192918833802548e-5
allele num: 83828
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.342+48G>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.969+48G>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.785+48G>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+48G>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.946+48G>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.816+48G>T
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15881
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21460
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2450
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16027
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2914
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8486
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6269
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-214503671-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214503671
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214503671
    reference: chr 1
allele count: 2
allele frequency: 2.411149153686647e-5
allele num: 82948
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.342+50C>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+50C>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.946+50C>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.816+50C>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.969+50C>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.785+50C>A
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16073
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21294
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8485
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 542
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2870
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5462
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 547
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 6231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5483
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

1-214504256-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214504256
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214504256
    reference: chr 1
allele count: 2
allele frequency: 1.649620587264929e-5
allele num: 121240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.947-37G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.786-37G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.970-37G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.343-37G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+635G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.817-37G>A
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11596
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4106
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 4723
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genotype quality: GenotypeQuality
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  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 11254
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genotype quality: GenotypeQuality
  all individuals: 7
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genotype quality: GenotypeQuality
  all individuals: 3012
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD

1-214504258-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214504258
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214504258
    reference: chr 1
allele count: 2
allele frequency: 1.649729444371123e-5
allele num: 121232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+637C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.817-35C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.970-35C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.343-35C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.947-35C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.786-35C>T
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11615
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 500
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23589
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4965
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genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
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genotype quality: GenotypeQuality
  all individuals: 5717
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genotype quality: GenotypeQuality
  all individuals: 95
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 4107
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

1-214504259-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214504259
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214504259
    reference: chr 1
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.817-34G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+638G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.343-34G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.970-34G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.947-34G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.786-34G>A
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11404
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3014
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4975
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23591
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5752
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4107
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

1-214504265-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214504265
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214504265
    reference: chr 1
allele count: 2
allele frequency: 1.649076517150396e-5
allele num: 121280
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.817-28G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.970-28G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+644G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.786-28G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.343-28G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.947-28G>A
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11322
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23593
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4983
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 11562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3022
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

1-214504266-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214504266
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214504266
    reference: chr 1
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.786-27C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+645C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.970-27C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.817-27C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.947-27C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.343-27C>T
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23592
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4985
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5747
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

1-214504275-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214504275
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214504275
    reference: chr 1
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.817-18T>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.947-18T>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+654T>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.970-18T>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.343-18T>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.786-18T>G
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3031
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11709
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23594
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

1-214504276-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214504276
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214504276
    reference: chr 1
allele count: 33
allele frequency: 2.720079129574679e-4
allele num: 121320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.786-17G>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.343-17G>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.947-17G>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+655G>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.970-17G>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.817-17G>T
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7829
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5550
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9581
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4990
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4108
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4733
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5774
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

1-214504285-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214504285
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214504285
    reference: chr 1
allele count: 2
allele frequency: 1.648233917357551e-5
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.343-8T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.817-8T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.970-8T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.786-8T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+664T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.947-8T>C
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5793
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: c.817-8T>C
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff

1-214504289-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214504289
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214504289
    reference: chr 1
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.947-4T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.343-4T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.786-4T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.817-4T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.970-4T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+668T>C
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7833
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5801
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23579
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4995
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4735
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
hgvs: c.817-4T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

1-214504300-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214504300
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214504300
    reference: chr 1
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+679C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.350C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.977C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.824C>T
  hgvsp: ENSP00000355924.5:p.Ala275Val
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.954C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.793C>T
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2481
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5001
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11869
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 3039
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4735
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5802
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala275Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-214504304-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214504304
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214504304
    reference: chr 1
allele count: 4
allele frequency: 3.295544423938835e-5
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.797G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.981G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.354G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.828G>A
  hgvsp: ENST00000366957.5:c.828G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.958G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+683G>A
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3040
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23580
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5000
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys276Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum

1-214504305-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214504305
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214504305
    reference: chr 1
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.982G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.798G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.829G>A
  hgvsp: ENSP00000355924.5:p.Val277Met
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+684G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.959G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.355G>A
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5001
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11888
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3040
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val277Met
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

1-214504315-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214504315
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214504315
    reference: chr 1
allele count: 4
allele frequency: 3.294947198471145e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+694G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.839G>A
  hgvsp: ENSP00000355924.5:p.Arg280Gln
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.365G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.992G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.969G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.808G>A
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5809
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg280Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

1-214504319-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214504319
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214504319
    reference: chr 1
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.996G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.369G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.843G>A
  hgvsp: ENST00000366957.5:c.843G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.973G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+698G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.812G>A
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4740
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23572
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Lys281Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-214504325-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214504325
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214504325
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+704C>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000409822
  ensembl transcript: ENST00000416415
  gene symbol: SMYD2
  hgvsc: ENST00000416415.1:c.6C>A
  hgvsp: ENSP00000409822.1:p.Ser2Arg
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.849C>A
  hgvsp: ENSP00000355924.5:p.Ser283Arg
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.1002C>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.979C>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.818C>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.375C>A
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23571
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11912
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4114
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser283Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

1-214504325-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214504325
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214504325
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.979C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+704C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.849C>T
  hgvsp: ENST00000366957.5:c.849C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000409822
  ensembl transcript: ENST00000416415
  gene symbol: SMYD2
  hgvsc: ENST00000416415.1:c.6C>T
  hgvsp: ENST00000416415.1:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.1002C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.818C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.375C>T
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4741
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser283Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

1-214504332-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214504332
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214504332
    reference: chr 1
allele count: 6
allele frequency: 4.942176534545814e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000409822
  ensembl transcript: ENST00000416415
  gene symbol: SMYD2
  hgvsc: ENST00000416415.1:c.13C>T
  hgvsp: ENSP00000409822.1:p.Pro5Ser
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.825C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.1009C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.856C>T
  hgvsp: ENSP00000355924.5:p.Pro286Ser
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+711C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.382C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.986C>T
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11919
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4740
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23569
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Pro286Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

1-214504337-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214504337
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214504337
    reference: chr 1
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.387G>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000409822
  ensembl transcript: ENST00000416415
  gene symbol: SMYD2
  hgvsc: ENST00000416415.1:c.18G>C
  hgvsp: ENSP00000409822.1:p.Lys6Asn
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.830G>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.1014G>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.861G>C
  hgvsp: ENSP00000355924.5:p.Lys287Asn
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.991G>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+716G>C
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3046
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23566
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11920
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4740
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys287Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

1-214504347-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214504347
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214504347
    reference: chr 1
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.871A>G
  hgvsp: ENSP00000355924.5:p.Ile291Val
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.1024A>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+726A>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.1001A>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000409822
  ensembl transcript: ENST00000416415
  gene symbol: SMYD2
  hgvsc: ENST00000416415.1:c.28A>G
  hgvsp: ENSP00000409822.1:p.Ile10Val
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.397A>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.840A>G
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23565
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3045
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile291Val
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-214504350-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214504350
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214504350
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.1027C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000409822
  ensembl transcript: ENST00000416415
  gene symbol: SMYD2
  hgvsc: ENST00000416415.1:c.31C>T
  hgvsp: ENSP00000409822.1:p.Arg11Ter
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+729C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.874C>T
  hgvsp: ENSP00000355924.5:p.Arg292Ter
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.400C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.1004C>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.843C>T
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5006
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5815
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11929
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4741
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg292Ter
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

1-214504351-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214504351
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214504351
    reference: chr 1
allele count: 26
allele frequency: 2.141503994728606e-4
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000409822
  ensembl transcript: ENST00000416415
  gene symbol: SMYD2
  hgvsc: ENST00000416415.1:c.32G>A
  hgvsp: ENSP00000409822.1:p.Arg11Gln
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.844G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+730G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.1028G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.1005G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.875G>A
  hgvsp: ENSP00000355924.5:p.Arg292Gln
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.401G>A
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg292Gln
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

1-214504367-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214504367
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214504367
    reference: chr 1
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.1021T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000409822
  ensembl transcript: ENST00000416415
  gene symbol: SMYD2
  hgvsc: ENST00000416415.1:c.48T>C
  hgvsp: ENST00000416415.1:c.48T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.1044T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.417T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.891T>C
  hgvsp: ENST00000366957.5:c.891T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+746T>C
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.860T>C
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2483
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4745
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23542
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr297Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

1-214504370-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214504370
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214504370
    reference: chr 1
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.420A>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.1047A>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.894A>T
  hgvsp: ENST00000366957.5:c.894A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000409822
  ensembl transcript: ENST00000416415
  gene symbol: SMYD2
  hgvsc: ENST00000416415.1:c.51A>T
  hgvsp: ENST00000416415.1:c.51A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+749A>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.863A>T
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.1024A>T
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11691
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4747
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5002
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11940
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23543
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala298Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

1-214504372-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214504372
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214504372
    reference: chr 1
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+751G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.1026G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.422G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.896G>A
  hgvsp: ENSP00000355924.5:p.Arg299His
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000409822
  ensembl transcript: ENST00000416415
  gene symbol: SMYD2
  hgvsc: ENST00000416415.1:c.53G>A
  hgvsp: ENSP00000409822.1:p.Arg18His
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.1049G>A
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.865G>A
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5814
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11939
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4745
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg299His
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

1-214504375-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 214504375
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 214504375
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000409822
  ensembl transcript: ENST00000416415
  gene symbol: SMYD2
  hgvsc: ENST00000416415.1:c.56A>G
  hgvsp: ENSP00000409822.1:p.Asn19Ser
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000491455
  gene symbol: SMYD2
  hgvsc: ENST00000491455.1:n.1052A>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000355924
  ensembl transcript: ENST00000366957
  gene symbol: SMYD2
  hgvsc: ENST00000366957.5:c.899A>G
  hgvsp: ENSP00000355924.5:p.Asn300Ser
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143499
  ensembl protein: ENSP00000388682
  ensembl transcript: ENST00000415093
  gene symbol: SMYD2
  hgvsc: ENST00000415093.2:c.816+754A>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000460580
  gene symbol: SMYD2
  hgvsc: ENST00000460580.1:n.868A>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000484459
  gene symbol: SMYD2
  hgvsc: ENST00000484459.1:n.425A>G
  variant of: http://identifiers.org/hgnc/20982
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143499
  ensembl transcript: ENST00000471645
  gene symbol: SMYD2
  hgvsc: ENST00000471645.1:n.1029A>G
  variant of: http://identifiers.org/hgnc/20982
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn300Ser
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2045
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9701
bin: 9.75e1
variant carriers: 1155

GenotypeQuality
all individuals: 3521
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 9881
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 3
allele frequency: 3.31858407079646e-3
allele num: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.031037827352086e-4
allele num: 16496
num of homozygotes: 0

Latino
type: Population
allele count: 43
allele frequency: 3.718436527153234e-3
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.10065120187258e-4
allele num: 66646
num of homozygotes: 0

African
type: Population
allele count: 1158
allele frequency: 1.113675706866705e-1
allele num: 10398
num of homozygotes: 62

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.89e-1

FS
type: SiteQuality
SIO_000300: 9.89e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.66e-2

QD
type: SiteQuality
SIO_000300: 1.701e1

VQSLOD
type: SiteQuality
SIO_000300: 3.64e0

DP
type: SiteQuality
SIO_000300: 2.075617e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.02e0

GenotypeQuality
all individuals: 115
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1416
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3202
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8827
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 3565
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.251914127007957e-4
allele num: 66610
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: 8634
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-2

DP
type: SiteQuality
SIO_000300: 2.040117e6

QD
type: SiteQuality
SIO_000300: 1.475e1

GenotypeQuality
all individuals: 162
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2092
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25880
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9987
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3199
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3559
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 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

DP
type: SiteQuality
SIO_000300: 2.037453e6

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.555e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

QD
type: SiteQuality
SIO_000300: 1.28e1

VQSLOD
type: SiteQuality
SIO_000300: -2.297e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.04e-1

FS
type: SiteQuality
SIO_000300: 4.503e0

MQ
type: SiteQuality
SIO_000300: 5.921e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.363e0

GenotypeQuality
all individuals: 678
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2070
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8785
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4491
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
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: 16484
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504030802550836e-5
allele num: 66488
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.029e1

MQRankSum
type: SiteQuality
SIO_000300: -1.68e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.005762e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.89e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.785e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.401e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2044
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4167
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2995
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7532
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1010
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66276
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.646922631680494e-5
allele num: 10366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
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: 3.3e-3

FS
type: SiteQuality
SIO_000300: 3.099e0

MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.352e0

DP
type: SiteQuality
SIO_000300: 1.92035e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.21e-1

QD
type: SiteQuality
SIO_000300: 1.345e1

GenotypeQuality
all individuals: 2968
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2751
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3572
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3939
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1983
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6441
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.181753722524226e-4
allele num: 8462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65872
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.191e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

DP
type: SiteQuality
SIO_000300: 1.847854e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.129e1

GenotypeQuality
all individuals: 4117
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1399
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1181
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7306
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
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variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6244
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8844
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 1.051405e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 5.16e0

VQSLOD
type: SiteQuality
SIO_000300: -1.609e0

GenotypeQuality
all individuals: 4735
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1582
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7311
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4065
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2352
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.973320704080827e-5
allele num: 50676
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9304
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8904
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.38e-1

FS
type: SiteQuality
SIO_000300: 3.358e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

QD
type: SiteQuality
SIO_000300: 8.890000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.05521e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.093e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

GenotypeQuality
all individuals: 556
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4074
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 671
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1432
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8343
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9164
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.792410192472531e-5
allele num: 51332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5676
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9396
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-1

DP
type: SiteQuality
SIO_000300: 1.095443e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

GenotypeQuality
all individuals: 95
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 490
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variant carriers: 0

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

GenotypeQuality
all individuals: 559
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GenotypeQuality
all individuals: 4073
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1980
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variant carriers: 0

GenotypeQuality
all individuals: 14426
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.929384526336099e-5
allele num: 51830
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.148633126579371e-4
allele num: 8706
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5694
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9290
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

DP
type: SiteQuality
SIO_000300: 1.117131e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.448e0

QD
type: SiteQuality
SIO_000300: 1.536e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 280
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4072
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5484
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5063
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1764
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8752
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9352
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.045150501672241e-4
allele num: 9568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52048
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5716
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.05e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.835e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.573e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

DP
type: SiteQuality
SIO_000300: 1.133357e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.88e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 363
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 271
bin: 8.75e1
variant carriers: 14

GenotypeQuality
all individuals: 4480
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 374
bin: 9.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1196
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 507
bin: 5.25e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.326913598968799e-4
allele num: 52754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5754
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8860
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.500600240096038e-4
allele num: 6664
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 6.944444444444444e-3
allele num: 720
num of homozygotes: 0

South Asian
type: Population
allele count: 680
allele frequency: 6.778309409888357e-2
allele num: 10032
num of homozygotes: 22

Latino
type: Population
allele count: 2
allele frequency: 2.062280882656218e-4
allele num: 9698
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

QD
type: SiteQuality
SIO_000300: 1.833e1

VQSLOD
type: SiteQuality
SIO_000300: 5.61e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.18245e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

GenotypeQuality
all individuals: 276
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4113
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 616
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2445
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20533
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8962
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.872729315704708e-5
allele num: 53398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9874
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.512e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

FS
type: SiteQuality
SIO_000300: 3.504e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

DP
type: SiteQuality
SIO_000300: 1.224732e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.353e1

GenotypeQuality
all individuals: 616
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2445
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 5.75e1
variant carriers: 1

East Asian
type: Population
allele count: 17
allele frequency: 2.483201869704937e-3
allele num: 6846
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.828975820719482e-5
allele num: 10174
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8962
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53398
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.512e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.224732e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

FS
type: SiteQuality
SIO_000300: 3.504e0

VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

QD
type: SiteQuality
SIO_000300: 1.353e1

GenotypeQuality
all individuals: 31258
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2062
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1178
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8110
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.226477814713109e-5
allele num: 13838
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.564715e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.62e0

VQSLOD
type: SiteQuality
SIO_000300: 4.23e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.146e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.53e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-2

GenotypeQuality
all individuals: 607
bin: 2.5e0
variant carriers: 86

GenotypeQuality
all individuals: 1075
bin: 4.25e1
variant carriers: 836

GenotypeQuality
all individuals: 594
bin: 8.75e1
variant carriers: 555

GenotypeQuality
all individuals: 1179
bin: 2.75e1
variant carriers: 383

GenotypeQuality
all individuals: 6646
bin: 6.25e1
variant carriers: 1738

GenotypeQuality
all individuals: 1178
bin: 8.25e1
variant carriers: 1083

GenotypeQuality
all individuals: 276
bin: 1.25e1
variant carriers: 149

African
type: Population
allele count: 5407
allele frequency: 5.501628001628002e-1
allele num: 9828
num of homozygotes: 1430

European (Non-Finnish)
type: Population
allele count: 35561
allele frequency: 5.814040939114512e-1
allele num: 61164
num of homozygotes: 9978

East Asian
type: Population
allele count: 5121
allele frequency: 6.31442663378545e-1
allele num: 8110
num of homozygotes: 1586

European (Finnish)
type: Population
allele count: 3354
allele frequency: 5.356116256786969e-1
allele num: 6262
num of homozygotes: 875

South Asian
type: Population
allele count: 8890
allele frequency: 6.424338777279954e-1
allele num: 13838
num of homozygotes: 2744

Latino
type: Population
allele count: 4246
allele frequency: 3.97565543071161e-1
allele num: 10680
num of homozygotes: 830

Other
type: Population
allele count: 483
allele frequency: 5.763723150357996e-1
allele num: 838
num of homozygotes: 132

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

DP
type: SiteQuality
SIO_000300: 1.564715e6

QD
type: SiteQuality
SIO_000300: 2.146e1

VQSLOD
type: SiteQuality
SIO_000300: 4.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.62e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.53e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

GenotypeQuality
all individuals: 2785
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4045
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.585640440173786e-5
allele num: 63066
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11128
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

FS
type: SiteQuality
SIO_000300: 3.033e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.039e0

QD
type: SiteQuality
SIO_000300: 5.05e0

VQSLOD
type: SiteQuality
SIO_000300: -7.911e-1

DP
type: SiteQuality
SIO_000300: 1.437789e6

GenotypeQuality
all individuals: 336
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2497
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4150
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1008
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.576541068894845e-5
allele num: 63430
num of homozygotes: 0

South Asian
type: Population
allele count: 72
allele frequency: 5.000694540908459e-3
allele num: 14398
num of homozygotes: 2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 1.461791e6

VQSLOD
type: SiteQuality
SIO_000300: 3.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.729e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

QD
type: SiteQuality
SIO_000300: 1.306e1

FS
type: SiteQuality
SIO_000300: 7.08e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.97e-2

GenotypeQuality
all individuals: 124
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2440
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2497
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.576541068894845e-5
allele num: 63430
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

QD
type: SiteQuality
SIO_000300: 1.306e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.729e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 1.461791e6

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

FS
type: SiteQuality
SIO_000300: 7.08e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.97e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.33e0

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2249
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2980
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 576
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1018
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 982
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3337
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11258
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63566
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.900990099009902e-5
allele num: 10100
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14448
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 1.037e1

QD
type: SiteQuality
SIO_000300: 2.773e1

MQRankSum
type: SiteQuality
SIO_000300: -5.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.536e0

DP
type: SiteQuality
SIO_000300: 1.470301e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.737e0

GenotypeQuality
all individuals: 1143
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1018
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2064
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38954
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.88041832943443e-5
allele num: 14534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63726
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.641e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

QD
type: SiteQuality
SIO_000300: 4.72e0

DP
type: SiteQuality
SIO_000300: 1.477682e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.557e0

FS
type: SiteQuality
SIO_000300: 1.392e0

GenotypeQuality
all individuals: 3026
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1085
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1864
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2979
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566661444461852e-5
allele num: 63830
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 4.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.588e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

QD
type: SiteQuality
SIO_000300: 1.336e1

DP
type: SiteQuality
SIO_000300: 1.487664e6

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
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variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2977
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4401
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14764
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.113615842077405e-5
allele num: 64234
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.76e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 5.125e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.505055e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

VQSLOD
type: SiteQuality
SIO_000300: -2.963e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

GenotypeQuality
all individuals: 1043
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2977
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 251
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2117
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543305142292734e-5
allele num: 64796
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.537042729787888e-4
allele num: 6506
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: 876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15068
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.416e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

DP
type: SiteQuality
SIO_000300: 1.531359e6

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e0

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.814e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.2e-1

GenotypeQuality
all individuals: 595
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
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GenotypeQuality
all individuals: 1089
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46661
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2974
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.731413001167769e-5
allele num: 10276
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.372e1

VQSLOD
type: SiteQuality
SIO_000300: -1.397e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.05e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.26e-1

DP
type: SiteQuality
SIO_000300: 1.561714e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.76e-1

MQ
type: SiteQuality
SIO_000300: 5.884e1

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

GenotypeQuality
all individuals: 237
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2974
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 591
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.710623422023694e-5
allele num: 10298
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65666
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

MQRankSum
type: SiteQuality
SIO_000300: -6.8e-1

QD
type: SiteQuality
SIO_000300: 1.254e1

FS
type: SiteQuality
SIO_000300: 3.435e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.36e0

DP
type: SiteQuality
SIO_000300: 1.570806e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.53e-1

GenotypeQuality
all individuals: 591
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 73
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 97
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variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15932
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: 10310
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.221e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.919e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.576787e6

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2977
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1108
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48102
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.682062858135092e-5
allele num: 11518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.516990291262136e-4
allele num: 6592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.028467595396729e-5
allele num: 66040
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.671179883945841e-5
allele num: 10340
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16168
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.883e1

QD
type: SiteQuality
SIO_000300: 1.006e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

DP
type: SiteQuality
SIO_000300: 1.586285e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.73e-1

GenotypeQuality
all individuals: 580
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 53
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variant carriers: 0

GenotypeQuality
all individuals: 4833
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1098
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48165
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514187941007238e-5
allele num: 66042
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: 8626
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16182
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.587052e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.11e-1

QD
type: SiteQuality
SIO_000300: 9.640000000000001e0

FS
type: SiteQuality
SIO_000300: 5.558e0

VQSLOD
type: SiteQuality
SIO_000300: 5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.64e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

GenotypeQuality
all individuals: 580
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2974
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 48165
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 88
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514187941007238e-5
allele num: 66042
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16182
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
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: 11518
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: -1.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.64e-1

FS
type: SiteQuality
SIO_000300: 5.558e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.11e-1

DP
type: SiteQuality
SIO_000300: 1.587052e6

QD
type: SiteQuality
SIO_000300: 9.640000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.64e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 100
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variant carriers: 0

GenotypeQuality
all individuals: 4859
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variant carriers: 0

GenotypeQuality
all individuals: 59
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variant carriers: 0

GenotypeQuality
all individuals: 239
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variant carriers: 0

GenotypeQuality
all individuals: 78
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variant carriers: 0

GenotypeQuality
all individuals: 2974
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 2
allele frequency: 2.31696014828545e-4
allele num: 8632
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66086
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.588193e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.785e0

QD
type: SiteQuality
SIO_000300: 8.16e0

FS
type: SiteQuality
SIO_000300: 6.88e0

MQ
type: SiteQuality
SIO_000300: 5.862e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 847
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1079
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2973
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 47884
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515702679762338e-5
allele num: 65976
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.156877231867996e-5
allele num: 16242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.692e0

MQRankSum
type: SiteQuality
SIO_000300: -3.55e-1

QD
type: SiteQuality
SIO_000300: 1.331e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.27e-1

DP
type: SiteQuality
SIO_000300: 1.58837e6

VQSLOD
type: SiteQuality
SIO_000300: 9.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.41e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4823
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1075
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GenotypeQuality
all individuals: 2979
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 578
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variant carriers: 0

GenotypeQuality
all individuals: 51
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GenotypeQuality
all individuals: 90
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16234
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.688097306689835e-5
allele num: 11510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.095043201455206e-5
allele num: 65970
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.676795045480937e-5
allele num: 10334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
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: 8628
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

QD
type: SiteQuality
SIO_000300: 2.095e1

DP
type: SiteQuality
SIO_000300: 1.588613e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 1.749e0

VQSLOD
type: SiteQuality
SIO_000300: -1.202e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4721
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variant carriers: 0

GenotypeQuality
all individuals: 2971
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variant carriers: 1

GenotypeQuality
all individuals: 1979
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GenotypeQuality
all individuals: 151
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GenotypeQuality
all individuals: 568
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GenotypeQuality
all individuals: 1050
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65204
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16042
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.917e1

DP
type: SiteQuality
SIO_000300: 1.570197e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.79e-1

QD
type: SiteQuality
SIO_000300: 9.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.395e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-2

GenotypeQuality
all individuals: 44050
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 162
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2971
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 512
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.358087487283825e-5
allele num: 15728
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
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: 64556
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.911e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.491e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.55103e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.523e1

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

GenotypeQuality
all individuals: 287
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4548
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1006
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554726368159204e-5
allele num: 64320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15640
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: 3.49e-1

FS
type: SiteQuality
SIO_000300: 1.229e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.415e1

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

DP
type: SiteQuality
SIO_000300: 1.544845e6

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

GenotypeQuality
all individuals: 305
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4109
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2969
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10026
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.578432301038608e-5
allele num: 63354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15252
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.057e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.869e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e0

MQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

MQ
type: SiteQuality
SIO_000300: 5.826e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 1.377e0

DP
type: SiteQuality
SIO_000300: 1.51583e6

VQSLOD
type: SiteQuality
SIO_000300: -3.469e0

QD
type: SiteQuality
SIO_000300: 6.59e0

GenotypeQuality
all individuals: 6262
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2970
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 40263
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14968
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.004217714400482e-4
allele num: 9958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.493661e6

MQ
type: SiteQuality
SIO_000300: 5.929e1

VQSLOD
type: SiteQuality
SIO_000300: 3.95e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.046e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.5e-1

GenotypeQuality
all individuals: 751
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27858
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2901
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.327668613913967e-4
allele num: 7532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6110
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9440
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13580
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.48e-1

FS
type: SiteQuality
SIO_000300: 3.31e0

MQRankSum
type: SiteQuality
SIO_000300: 9.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

DP
type: SiteQuality
SIO_000300: 1.338903e6

MQ
type: SiteQuality
SIO_000300: 6.054e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 1.683e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

GenotypeQuality
all individuals: 639
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4535
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2968
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 706
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.035812284528248e-5
allele num: 56852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5982
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9166
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7146
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9928
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12984
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-1

QD
type: SiteQuality
SIO_000300: 1.237e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.34e-1

DP
type: SiteQuality
SIO_000300: 1.239622e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 609
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2196
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17177
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 5.060728744939271e-4
allele num: 5928
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9068
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.791536780250098e-5
allele num: 55818
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.433075379764976e-4
allele num: 6978
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.189031e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

VQSLOD
type: SiteQuality
SIO_000300: 5.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.395e1

GenotypeQuality
all individuals: 766
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3972
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21105
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.896741398277759e-5
allele num: 52722
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5768
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11678
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9190
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.406e1

DP
type: SiteQuality
SIO_000300: 1.074581e6

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e0

FS
type: SiteQuality
SIO_000300: 7.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

GenotypeQuality
all individuals: 213
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7473
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5768
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.146000458400183e-4
allele num: 8726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.793482796555518e-5
allele num: 52722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11678
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

DP
type: SiteQuality
SIO_000300: 1.074581e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e0

MQRankSum
type: SiteQuality
SIO_000300: -4.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

FS
type: SiteQuality
SIO_000300: 7.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

QD
type: SiteQuality
SIO_000300: 1.406e1

GenotypeQuality
all individuals: 7558
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9413
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 9.5671807431786e-5
allele num: 52262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5706
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9126
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.142e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

QD
type: SiteQuality
SIO_000300: 1.289e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.256e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

DP
type: SiteQuality
SIO_000300: 1.065897e6

GenotypeQuality
all individuals: 289
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6405
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1255
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 432
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1391
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4839
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 5
allele frequency: 8.156606851549756e-4
allele num: 6130
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.933357155619081e-5
allele num: 11194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50884
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5638
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

DP
type: SiteQuality
SIO_000300: 1.020971e6

QD
type: SiteQuality
SIO_000300: 8.25e0

FS
type: SiteQuality
SIO_000300: 7.86e0

VQSLOD
type: SiteQuality
SIO_000300: -4.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8100
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8032
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5384
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.233521019431862e-5
allele num: 47242
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.736e0

DP
type: SiteQuality
SIO_000300: 9.70275e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

FS
type: SiteQuality
SIO_000300: 3.297e0

QD
type: SiteQuality
SIO_000300: 1.373e1

MQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e0

VQSLOD
type: SiteQuality
SIO_000300: 8.05e-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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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 46532
num of homozygotes: 0

South Asian
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allele frequency: 9.938382031405287e-5
allele num: 10062
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5294
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7938
num of homozygotes: 0

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.408e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
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SIO_000300: 9.65327e5

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-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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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9874
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 684
num of homozygotes: 0

African
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allele count: 2
allele frequency: 2.542588354945334e-4
allele num: 7866
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5252
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46068
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.477e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

DP
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SIO_000300: 9.63896e5

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.002462018855461e-5
allele num: 66612
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.17e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e-1

FS
type: SiteQuality
SIO_000300: 3.261e0

DP
type: SiteQuality
SIO_000300: 2.380747e6

QD
type: SiteQuality
SIO_000300: 1.224e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

African
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allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.14e1

MQ
type: SiteQuality
SIO_000300: 5.993e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.89e-1

DP
type: SiteQuality
SIO_000300: 2.381861e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16492
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.28e-2

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 10400
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
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MQRankSum
type: SiteQuality
SIO_000300: -2.94e-1

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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DP
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MQ
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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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
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East Asian
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African
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

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

South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

Latino
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allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

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

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

European (Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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MQRankSum
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DP
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QD
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 13
allele frequency: 1.95019501950195e-4
allele num: 66660
num of homozygotes: 0

African
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allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

Latino
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allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

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

South Asian
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allele count: 17
allele frequency: 1.029554263565892e-3
allele num: 16512
num of homozygotes: 0

QD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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ClippingRankSum
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MQ
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BaseQRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 23581
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4994
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 8646
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.97e0

QD
type: SiteQuality
SIO_000300: 1.316e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.34e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.769e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.382768e6

FS
type: SiteQuality
SIO_000300: 4.558e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.36e-2

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

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3038
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2478
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11832
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.784e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e0

DP
type: SiteQuality
SIO_000300: 2.382786e6

FS
type: SiteQuality
SIO_000300: 2.314e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.02e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

VQSLOD
type: SiteQuality
SIO_000300: -2.454e0

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

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

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

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23579
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

FS
type: SiteQuality
SIO_000300: 2.165e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.51e-2

QD
type: SiteQuality
SIO_000300: 1.338e1

VQSLOD
type: SiteQuality
SIO_000300: 5.93e-1

DP
type: SiteQuality
SIO_000300: 2.383403e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.737e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.016999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

GenotypeQuality
all individuals: 11888
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4735
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2480
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5804
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4112
bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.295e0

DP
type: SiteQuality
SIO_000300: 2.383463e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.52e-2

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.441e1

MQRankSum
type: SiteQuality
SIO_000300: -1.95e-1

GenotypeQuality
all individuals: 4735
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 2483
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5806
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23577
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-2

DP
type: SiteQuality
SIO_000300: 2.38302e6

QD
type: SiteQuality
SIO_000300: 1.354e1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

FS
type: SiteQuality
SIO_000300: 2.812e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.547e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 11909
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4739
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3041
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2484
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23577
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 5001
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

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

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.6e-2

MQ
type: SiteQuality
SIO_000300: 5.985e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.54e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.439e1

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

DP
type: SiteQuality
SIO_000300: 2.383291e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.5e-1

GenotypeQuality
all individuals: 4114
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11909
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5002
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5812
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2484
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3040
bin: 7.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.383001e6

VQSLOD
type: SiteQuality
SIO_000300: 2.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.96e-2

MQ
type: SiteQuality
SIO_000300: 5.984e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.017e0

QD
type: SiteQuality
SIO_000300: 1.451e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.122999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3043
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5003
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5816
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.14e-1

QD
type: SiteQuality
SIO_000300: 1.041e1

MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.73e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 2.38314e6

GenotypeQuality
all individuals: 23571
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11912
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3043
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5816
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 3.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.73e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

MQRankSum
type: SiteQuality
SIO_000300: 9.14e-1

DP
type: SiteQuality
SIO_000300: 2.38314e6

QD
type: SiteQuality
SIO_000300: 1.041e1

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

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4113
bin: 9.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 6
allele frequency: 5.182242183451373e-4
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.987e1

FS
type: SiteQuality
SIO_000300: 4.689e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.81e-1

DP
type: SiteQuality
SIO_000300: 2.382892e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.335e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

QD
type: SiteQuality
SIO_000300: 1.387e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

GenotypeQuality
all individuals: 5814
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 5006
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2485
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
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African
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allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.67e0

FS
type: SiteQuality
SIO_000300: 9.15e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

DP
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SIO_000300: 2.382298e6

QD
type: SiteQuality
SIO_000300: 1.379e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.46e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

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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variant carriers: 0

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

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

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

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.382319e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

QD
type: SiteQuality
SIO_000300: 1.452e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
SIO_000300: 7.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

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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variant carriers: 0

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

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

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

Other
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allele frequency: 0.0e0
allele num: 908
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

QD
type: SiteQuality
SIO_000300: 1.433e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e0

FS
type: SiteQuality
SIO_000300: 5.479e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 2.382123e6

VQSLOD
type: SiteQuality
SIO_000300: 7.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.77e-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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variant carriers: 26

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele num: 8654
num of homozygotes: 0

South Asian
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allele count: 8
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allele num: 16512
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 12
allele frequency: 1.79807605861728e-4
allele num: 66738
num of homozygotes: 0

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

European (Finnish)
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allele count: 3
allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.446e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.726e0

FS
type: SiteQuality
SIO_000300: 1.222e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.95e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

DP
type: SiteQuality
SIO_000300: 2.382225e6

MQ
type: SiteQuality
SIO_000300: 5.984e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

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

Latino
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East Asian
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allele num: 8654
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Other
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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South Asian
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.218e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.868e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.58e-1

FS
type: SiteQuality
SIO_000300: 2.1318e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.388e0

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
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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South Asian
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East Asian
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Other
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-1

MQRankSum
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FS
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InbreedingCoeff
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MQ
type: SiteQuality
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VQSLOD
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SIO_000300: -6.991000000000001e-1

BaseQRankSum
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DP
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QD
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ClippingRankSum
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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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 1.211240310077519e-4
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European (Non-Finnish)
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allele num: 66736
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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Latino
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num of homozygotes: 0

Other
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QD
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MQ
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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DP
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