1-110169984-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110169984
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110169984
    reference: chr 1
allele count: 35
allele frequency: 2.895241876778506e-4
allele num: 120888
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.665+46T>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.668+46T>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.779+46T>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.440T>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1061+46T>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1022+46T>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1022+46T>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.933+46T>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.797+46T>G
  variant of: http://identifiers.org/hgnc/469
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30787
  bin: 9.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

1-110169986-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110169986
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110169986
    reference: chr 1
allele count: 8
allele frequency: 6.619228859837829e-5
allele num: 120860
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.442C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1022+48C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.668+48C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.797+48C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1022+48C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1061+48C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.665+48C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.933+48C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.779+48C>T
  variant of: http://identifiers.org/hgnc/469
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30788
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-110169987-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110169987
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110169987
    reference: chr 1
allele count: 67
allele frequency: 5.539937158921779e-4
allele num: 120940
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.797+49G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.668+49G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1061+49G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1022+49G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.779+49G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1022+49G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.665+49G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.443G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.933+49G>A
  variant of: http://identifiers.org/hgnc/469
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30788
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

1-110170004-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170004
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170004
    reference: chr 1
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.780-47C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.934-47C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.669-47C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1023-47C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1023-47C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.460C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.798-47C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1062-47C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.666-47C>T
  variant of: http://identifiers.org/hgnc/469
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3449
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19722
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4746
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

1-110170010-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170010
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170010
    reference: chr 1
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.669-41G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1023-41G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.466G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.798-41G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.934-41G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1023-41G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.780-41G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.666-41G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1062-41G>A
  variant of: http://identifiers.org/hgnc/469
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13647
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

1-110170013-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170013
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170013
    reference: chr 1
allele count: 2
allele frequency: 1.648695881557688e-5
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.934-38C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1023-38C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1023-38C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.798-38C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.669-38C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.469C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.666-38C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1062-38C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.780-38C>T
  variant of: http://identifiers.org/hgnc/469
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10338
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7512
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5113
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7089
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4732
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

1-110170038-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170038
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170038
    reference: chr 1
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1062-13C>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.494C>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1023-13C>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.666-13C>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.669-13C>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.798-13C>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.934-13C>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1023-13C>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.780-13C>G
  variant of: http://identifiers.org/hgnc/469
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3900
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

1-110170038-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170038
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170038
    reference: chr 1
allele count: 2
allele frequency: 1.648043772042586e-5
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1062-13C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1023-13C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.669-13C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.934-13C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.780-13C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1023-13C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.666-13C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.798-13C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.494C>T
  variant of: http://identifiers.org/hgnc/469
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11367
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13840
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4740
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

1-110170040-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170040
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170040
    reference: chr 1
allele count: 3
allele frequency: 2.472024918011174e-5
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1023-11C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1062-11C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1023-11C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.496C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.934-11C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.669-11C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.780-11C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.798-11C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.666-11C>T
  variant of: http://identifiers.org/hgnc/469
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3467
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS

1-110170044-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170044
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170044
    reference: chr 1
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.780-7A>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1023-7A>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.798-7A>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.669-7A>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1023-7A>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1062-7A>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.934-7A>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.500A>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.666-7A>G
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7179
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1023-7A>G
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

1-110170049-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170049
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170049
    reference: chr 1
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1023-2A>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.666-2A>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.669-2A>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.780-2A>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.798-2A>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1023-2A>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.934-2A>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1062-2A>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.505A>G
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7177
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3897
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1023-2A>G
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

1-110170054-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170054
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170054
    reference: chr 1
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.801C>T
  hgvsp: ENST00000358729.4:c.801C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.669C>T
  hgvsp: ENST00000393688.3:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.672C>T
  hgvsp: ENST00000528454.1:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1026C>T
  hgvsp: ENST00000256578.3:c.1026C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.783C>T
  hgvsp: ENST00000342115.4:c.783C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1065C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.937C>T
  hgvsp: ENST00000369840.2:c.937C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1026C>T
  hgvsp: ENST00000528667.1:c.1026C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.510C>T
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3897
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7184
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Cys342Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

1-110170056-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170056
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170056
    reference: chr 1
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1028C>T
  hgvsp: ENSP00000256578.3:p.Ser343Leu
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.671C>T
  hgvsp: ENSP00000377292.3:p.Ser224Leu
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1067C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.674C>T
  hgvsp: ENSP00000437164.1:p.Ser225Leu
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1028C>T
  hgvsp: ENSP00000436541.1:p.Ser343Leu
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.512C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.803C>T
  hgvsp: ENSP00000351573.4:p.Ser268Leu
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.939C>T
  hgvsp: ENSP00000358855.2:p.Ser314Leu
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.785C>T
  hgvsp: ENSP00000345498.4:p.Ser262Leu
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3463
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser343Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

1-110170061-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170061
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170061
    reference: chr 1
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.808G>A
  hgvsp: ENSP00000351573.4:p.Val270Met
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.676G>A
  hgvsp: ENSP00000377292.3:p.Val226Met
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1033G>A
  hgvsp: ENSP00000256578.3:p.Val345Met
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.679G>A
  hgvsp: ENSP00000437164.1:p.Val227Met
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1072G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1033G>A
  hgvsp: ENSP00000436541.1:p.Val345Met
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.944G>A
  hgvsp: ENSP00000358855.2:p.Val316Met
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.790G>A
  hgvsp: ENSP00000345498.4:p.Val264Met
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.517G>A
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4857
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19708
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2575
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val345Met
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

1-110170062-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170062
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170062
    reference: chr 1
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1073T>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.518T>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.791T>G
  hgvsp: ENSP00000345498.4:p.Val264Gly
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.677T>G
  hgvsp: ENSP00000377292.3:p.Val226Gly
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1034T>G
  hgvsp: ENSP00000256578.3:p.Val345Gly
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1034T>G
  hgvsp: ENSP00000436541.1:p.Val345Gly
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.809T>G
  hgvsp: ENSP00000351573.4:p.Val270Gly
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.680T>G
  hgvsp: ENSP00000437164.1:p.Val227Gly
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.945T>G
  hgvsp: ENSP00000358855.2:p.Val316Gly
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4866
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7164
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val345Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

1-110170066-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170066
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170066
    reference: chr 1
allele count: 11
allele frequency: 9.269090112408783e-5
allele num: 118674
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.522G>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.949G>C
  hgvsp: ENSP00000358855.2:p.Glu317Asp
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1077G>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.684G>C
  hgvsp: ENSP00000437164.1:p.Glu228Asp
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1038G>C
  hgvsp: ENSP00000256578.3:p.Glu346Asp
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1038G>C
  hgvsp: ENSP00000436541.1:p.Glu346Asp
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.795G>C
  hgvsp: ENSP00000345498.4:p.Glu265Asp
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.813G>C
  hgvsp: ENSP00000351573.4:p.Glu271Asp
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.681G>C
  hgvsp: ENSP00000377292.3:p.Glu227Asp
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 10256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7386
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7107
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4669
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 1
hgvs: p.Glu346Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP

1-110170067-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170067
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170067
    reference: chr 1
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.685C>T
  hgvsp: ENST00000528454.1:c.685C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1039C>T
  hgvsp: ENST00000528667.1:c.1039C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.796C>T
  hgvsp: ENST00000342115.4:c.796C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1078C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.523C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.682C>T
  hgvsp: ENST00000393688.3:c.682C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.950C>T
  hgvsp: ENST00000369840.2:c.950C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1039C>T
  hgvsp: ENST00000256578.3:c.1039C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.814C>T
  hgvsp: ENST00000358729.4:c.814C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3921
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu347Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-110170076-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170076
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170076
    reference: chr 1
allele count: 6
allele frequency: 4.942502224126001e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.694C>A
  hgvsp: ENSP00000437164.1:p.Pro232Thr
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1048C>A
  hgvsp: ENSP00000256578.3:p.Pro350Thr
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1048C>A
  hgvsp: ENSP00000436541.1:p.Pro350Thr
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.691C>A
  hgvsp: ENSP00000377292.3:p.Pro231Thr
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.805C>A
  hgvsp: ENSP00000345498.4:p.Pro269Thr
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1087C>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.959C>A
  hgvsp: ENSP00000358855.2:p.Pro321Thr
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.823C>A
  hgvsp: ENSP00000351573.4:p.Pro275Thr
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.532C>A
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3924
  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: 7.5e0
  variant carriers: 0
hgvs: p.Pro350Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-110170080-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170080
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170079
    reference: chr 1
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.829delC
  hgvsp: ENSP00000351573.4:p.Leu277CysfsTer11
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1093delC
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.811delC
  hgvsp: ENSP00000345498.4:p.Leu271CysfsTer11
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.700delC
  hgvsp: ENSP00000437164.1:p.Leu234CysfsTer11
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1054delC
  hgvsp: ENSP00000436541.1:p.Leu352CysfsTer11
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1054delC
  hgvsp: ENSP00000256578.3:p.Leu352CysfsTer11
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.697delC
  hgvsp: ENSP00000377292.3:p.Leu233CysfsTer11
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.538delC
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.965delC
  hgvsp: ENSP00000358855.2:p.Leu323CysfsTer11
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7561
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5189
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu352CysfsTer11
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: AC
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

1-110170102-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170102
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170102
    reference: chr 1
allele count: 54
allele frequency: 4.448398576512455e-4
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1074C>T
  hgvsp: ENST00000256578.3:c.1074C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.717C>T
  hgvsp: ENST00000393688.3:c.717C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.831C>T
  hgvsp: ENST00000342115.4:c.831C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.720C>T
  hgvsp: ENST00000528454.1:c.720C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1074C>T
  hgvsp: ENST00000528667.1:c.1074C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.985C>T
  hgvsp: ENST00000369840.2:c.985C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.558C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.849C>T
  hgvsp: ENST00000358729.4:c.849C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1113C>T
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 9.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3499
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4798
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp358Asp
num of homozygotes: 1
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

1-110170103-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170103
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170103
    reference: chr 1
allele count: 30
allele frequency: 2.47133254250692e-4
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.721G>A
  hgvsp: ENSP00000437164.1:p.Val241Ile
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1075G>A
  hgvsp: ENSP00000436541.1:p.Val359Ile
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1114G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.832G>A
  hgvsp: ENSP00000345498.4:p.Val278Ile
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.986G>A
  hgvsp: ENSP00000358855.2:p.Val330Ile
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1075G>A
  hgvsp: ENSP00000256578.3:p.Val359Ile
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.559G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.850G>A
  hgvsp: ENSP00000351573.4:p.Val284Ile
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.718G>A
  hgvsp: ENSP00000377292.3:p.Val240Ile
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10510
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7323
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val359Ile
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum

1-110170103-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170103
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170103
    reference: chr 1
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1075G>C
  hgvsp: ENSP00000256578.3:p.Val359Leu
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.832G>C
  hgvsp: ENSP00000345498.4:p.Val278Leu
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.850G>C
  hgvsp: ENSP00000351573.4:p.Val284Leu
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.721G>C
  hgvsp: ENSP00000437164.1:p.Val241Leu
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.559G>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1075G>C
  hgvsp: ENSP00000436541.1:p.Val359Leu
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.718G>C
  hgvsp: ENSP00000377292.3:p.Val240Leu
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.986G>C
  hgvsp: ENSP00000358855.2:p.Val330Leu
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1114G>C
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3931
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val359Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff

1-110170118-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170118
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170118
    reference: chr 1
allele count: 3
allele frequency: 2.47133254250692e-5
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1001G>A
  hgvsp: ENSP00000358855.2:p.Ala335Thr
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.847G>A
  hgvsp: ENSP00000345498.4:p.Ala283Thr
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1129G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.733G>A
  hgvsp: ENSP00000377292.3:p.Ala245Thr
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.574G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.736G>A
  hgvsp: ENSP00000437164.1:p.Ala246Thr
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1090G>A
  hgvsp: ENSP00000436541.1:p.Ala364Thr
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.865G>A
  hgvsp: ENSP00000351573.4:p.Ala289Thr
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1090G>A
  hgvsp: ENSP00000256578.3:p.Ala364Thr
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala364Thr
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

1-110170119-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170119
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170119
    reference: chr 1
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.734C>T
  hgvsp: ENSP00000377292.3:p.Ala245Val
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.866C>T
  hgvsp: ENSP00000351573.4:p.Ala289Val
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.737C>T
  hgvsp: ENSP00000437164.1:p.Ala246Val
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1002C>T
  hgvsp: ENSP00000358855.2:p.Ala335Val
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.848C>T
  hgvsp: ENSP00000345498.4:p.Ala283Val
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1091C>T
  hgvsp: ENSP00000256578.3:p.Ala364Val
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1130C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1091C>T
  hgvsp: ENSP00000436541.1:p.Ala364Val
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.575C>T
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19042
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  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: 7.5e0
  variant carriers: 0
hgvs: p.Ala364Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum

1-110170121-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170121
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170121
    reference: chr 1
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.577C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1132C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.850C>T
  hgvsp: ENST00000342115.4:c.850C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1093C>T
  hgvsp: ENST00000256578.3:c.1093C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1093C>T
  hgvsp: ENST00000528667.1:c.1093C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.739C>T
  hgvsp: ENST00000528454.1:c.739C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.868C>T
  hgvsp: ENST00000358729.4:c.868C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.736C>T
  hgvsp: ENST00000393688.3:c.736C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1004C>T
  hgvsp: ENST00000369840.2:c.1004C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7322
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu365Leu
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

1-110170138-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170138
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170138
    reference: chr 1
allele count: 2
allele frequency: 1.647826516824309e-5
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.885C>T
  hgvsp: ENST00000358729.4:c.885C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1021C>T
  hgvsp: ENST00000369840.2:c.1021C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1110C>T
  hgvsp: ENST00000256578.3:c.1110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1110C>T
  hgvsp: ENST00000528667.1:c.1110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.867C>T
  hgvsp: ENST00000342115.4:c.867C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1149C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.753C>T
  hgvsp: ENST00000393688.3:c.753C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.594C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.756C>T
  hgvsp: ENST00000528454.1:c.756C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7309
  bin: 6.75e1
  variant carriers: 0
hgvs: c.1110C>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

1-110170149-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170149
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170149
    reference: chr 1
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.887+9C>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1151+9C>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.758+9C>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1023+9C>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1112+9C>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1112+9C>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.869+9C>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.755+9C>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.596+9C>G
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14125
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

1-110170161-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170161
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170161
    reference: chr 1
allele count: 2
allele frequency: 1.648777431534517e-5
allele num: 121302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1023+21G>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1112+21G>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1151+21G>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.755+21G>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1112+21G>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.869+21G>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.758+21G>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.596+21G>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.887+21G>C
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13809
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7542
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3915
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3465
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

1-110170161-GAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170161
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170159
    reference: chr 1
allele count: 2
allele frequency: 1.648777431534517e-5
allele num: 121302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.596+24_596+25delAC
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1112+24_1112+25delAC
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.869+24_869+25delAC
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.887+24_887+25delAC
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.755+24_755+25delAC
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1023+24_1023+25delAC
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.758+24_758+25delAC
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1112+24_1112+25delAC
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1151+24_1151+25delAC
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13809
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3465
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: GAC
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

1-110170163-C-CGGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170163
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170166
    reference: chr 1
allele count: 2
allele frequency: 1.649076517150396e-5
allele num: 121280
alternate allele: CGGG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.755+23_755+24insGGG
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.758+23_758+24insGGG
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1112+23_1112+24insGGG
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.596+23_596+24insGGG
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1023+23_1023+24insGGG
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1151+23_1151+24insGGG
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.887+23_887+24insGGG
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.869+23_869+24insGGG
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1112+23_1112+24insGGG
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4873
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2597
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

1-110170173-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170173
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170173
    reference: chr 1
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1112+33C>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1023+33C>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.887+33C>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1151+33C>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1112+33C>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.869+33C>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.758+33C>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.755+33C>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.596+33C>G
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10659
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10240
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12042
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP

1-110170173-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170173
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170173
    reference: chr 1
allele count: 3
allele frequency: 2.475165836111019e-5
allele num: 121204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.758+33C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1112+33C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.887+33C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1023+33C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1151+33C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.755+33C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.869+33C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.596+33C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1112+33C>T
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3900
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-110170178-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170178
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170178
    reference: chr 1
allele count: 7
allele frequency: 5.777579689331286e-5
allele num: 121158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.596+38C>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1023+38C>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.869+38C>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1151+38C>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1112+38C>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1112+38C>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.755+38C>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.887+38C>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.758+38C>A
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10474
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10110
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4831
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11833
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18985
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 3286
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3888
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-110170179-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170179
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170179
    reference: chr 1
allele count: 1
allele frequency: 8.254639107178234e-6
allele num: 121144
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.755+39C>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1023+39C>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.869+39C>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1112+39C>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.596+39C>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1151+39C>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.887+39C>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1112+39C>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.758+39C>A
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10086
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3274
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

1-110170345-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170345
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170345
    reference: chr 1
allele count: 1
allele frequency: 8.386447500838645e-6
allele num: 119240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1113-51A>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.888-51A>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.756-51A>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1113-51A>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.597-51A>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.759-51A>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1024-51A>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1152-51A>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.870-51A>G
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8448
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4178
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-110170348-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170348
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170348
    reference: chr 1
allele count: 6
allele frequency: 5.033050364057309e-5
allele num: 119212
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.756-48T>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.888-48T>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.597-48T>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.759-48T>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1113-48T>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1024-48T>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1113-48T>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1152-48T>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.870-48T>C
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7580
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6712
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8450
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3221
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum

1-110170358-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170358
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170358
    reference: chr 1
allele count: 1
allele frequency: 8.382510729613734e-6
allele num: 119296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.888-38C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1024-38C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1113-38C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.756-38C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1113-38C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1152-38C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.597-38C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.759-38C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.870-38C>T
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6246
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3212
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

1-110170370-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170370
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170370
    reference: chr 1
allele count: 1
allele frequency: 8.353660574063554e-6
allele num: 119708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.888-26C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1113-26C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.756-26C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.597-26C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.759-26C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1113-26C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1152-26C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1024-26C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.870-26C>T
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6690
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5953
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3461
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31020
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

1-110170371-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170371
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170371
    reference: chr 1
allele count: 3
allele frequency: 2.504675394068929e-5
allele num: 119776
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1113-25C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1113-25C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.597-25C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.870-25C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1152-25C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1024-25C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.888-25C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.756-25C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.759-25C>T
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8924
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7918
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

1-110170375-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170375
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170375
    reference: chr 1
allele count: 1
allele frequency: 8.341953351796856e-6
allele num: 119876
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1113-21C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.888-21C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1024-21C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.870-21C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.756-21C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.759-21C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1113-21C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1152-21C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.597-21C>T
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3694
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

1-110170384-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170384
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170384
    reference: chr 1
allele count: 1
allele frequency: 8.315731701232391e-6
allele num: 120254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.759-12C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.888-12C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1113-12C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.756-12C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1024-12C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.870-12C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1113-12C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1152-12C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.597-12C>T
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3767
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31043
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

1-110170391-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170391
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170391
    reference: chr 1
allele count: 1
allele frequency: 8.29737802854298e-6
allele num: 120520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.759-5C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.870-5C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.888-5C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.756-5C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1152-5C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1113-5C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1024-5C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000529299
  gene symbol: AMPD2
  hgvsc: ENST00000529299.1:n.1C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.597-5C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1113-5C>T
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5957
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7650
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1113-5C>T
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

1-110170413-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170413
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170413
    reference: chr 1
allele count: 1
allele frequency: 8.25695648583932e-6
allele num: 121110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.614G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.887G>A
  hgvsp: ENSP00000345498.4:p.Arg296His
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1169G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1130G>A
  hgvsp: ENSP00000256578.3:p.Arg377His
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.905G>A
  hgvsp: ENSP00000351573.4:p.Arg302His
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1041G>A
  hgvsp: ENSP00000358855.2:p.Arg348His
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.773G>A
  hgvsp: ENSP00000377292.3:p.Arg258His
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.776G>A
  hgvsp: ENSP00000437164.1:p.Arg259His
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000529299
  gene symbol: AMPD2
  hgvsc: ENST00000529299.1:n.23G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1130G>A
  hgvsp: ENSP00000436541.1:p.Arg377His
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5965
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3934
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg377His
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

1-110170413-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170413
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170413
    reference: chr 1
allele count: 1
allele frequency: 8.25695648583932e-6
allele num: 121110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.776G>T
  hgvsp: ENSP00000437164.1:p.Arg259Leu
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.614G>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1130G>T
  hgvsp: ENSP00000436541.1:p.Arg377Leu
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1130G>T
  hgvsp: ENSP00000256578.3:p.Arg377Leu
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000529299
  gene symbol: AMPD2
  hgvsc: ENST00000529299.1:n.23G>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.905G>T
  hgvsp: ENSP00000351573.4:p.Arg302Leu
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1169G>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.887G>T
  hgvsp: ENSP00000345498.4:p.Arg296Leu
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.773G>T
  hgvsp: ENSP00000377292.3:p.Arg258Leu
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1041G>T
  hgvsp: ENSP00000358855.2:p.Arg348Leu
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5965
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10040
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg377Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

1-110170415-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170415
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170415
    reference: chr 1
allele count: 3
allele frequency: 2.476350849388341e-5
allele num: 121146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.778C>T
  hgvsp: ENSP00000437164.1:p.Arg260Trp
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.889C>T
  hgvsp: ENSP00000345498.4:p.Arg297Trp
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.775C>T
  hgvsp: ENSP00000377292.3:p.Arg259Trp
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1043C>T
  hgvsp: ENSP00000358855.2:p.Arg349Trp
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1171C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1132C>T
  hgvsp: ENSP00000436541.1:p.Arg378Trp
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.907C>T
  hgvsp: ENSP00000351573.4:p.Arg303Trp
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.616C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000529299
  gene symbol: AMPD2
  hgvsc: ENST00000529299.1:n.25C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1132C>T
  hgvsp: ENSP00000256578.3:p.Arg378Trp
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9213
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg378Trp
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum

1-110170416-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170416
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170416
    reference: chr 1
allele count: 1
allele frequency: 8.25300409349003e-6
allele num: 121168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.779G>C
  hgvsp: ENSP00000437164.1:p.Arg260Pro
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1133G>C
  hgvsp: ENSP00000436541.1:p.Arg378Pro
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1172G>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.776G>C
  hgvsp: ENSP00000377292.3:p.Arg259Pro
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.908G>C
  hgvsp: ENSP00000351573.4:p.Arg303Pro
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.890G>C
  hgvsp: ENSP00000345498.4:p.Arg297Pro
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.617G>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000529299
  gene symbol: AMPD2
  hgvsc: ENST00000529299.1:n.26G>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1044G>C
  hgvsp: ENSP00000358855.2:p.Arg349Pro
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1133G>C
  hgvsp: ENSP00000256578.3:p.Arg378Pro
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31074
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3523
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg378Pro
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

1-110170420-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170420
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170420
    reference: chr 1
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.912G>A
  hgvsp: ENST00000358729.4:c.912G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000529299
  gene symbol: AMPD2
  hgvsc: ENST00000529299.1:n.30G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.783G>A
  hgvsp: ENST00000528454.1:c.783G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1176G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1137G>A
  hgvsp: ENST00000528667.1:c.1137G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.894G>A
  hgvsp: ENST00000342115.4:c.894G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1137G>A
  hgvsp: ENST00000256578.3:c.1137G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1048G>A
  hgvsp: ENST00000369840.2:c.1048G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.621G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.780G>A
  hgvsp: ENST00000393688.3:c.780G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu379Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: G
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-110170424-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170424
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170424
    reference: chr 1
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.787T>A
  hgvsp: ENSP00000437164.1:p.Tyr263Asn
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.625T>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1141T>A
  hgvsp: ENSP00000436541.1:p.Tyr381Asn
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000529299
  gene symbol: AMPD2
  hgvsc: ENST00000529299.1:n.34T>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.784T>A
  hgvsp: ENSP00000377292.3:p.Tyr262Asn
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.898T>A
  hgvsp: ENSP00000345498.4:p.Tyr300Asn
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.916T>A
  hgvsp: ENSP00000351573.4:p.Tyr306Asn
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1180T>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1052T>A
  hgvsp: ENSP00000358855.2:p.Tyr352Asn
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1141T>A
  hgvsp: ENSP00000256578.3:p.Tyr381Asn
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr381Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

1-110170426-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170426
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170426
    reference: chr 1
allele count: 2
allele frequency: 1.649185302460584e-5
allele num: 121272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1182C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.918C>T
  hgvsp: ENST00000358729.4:c.918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.900C>T
  hgvsp: ENST00000342115.4:c.900C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.789C>T
  hgvsp: ENST00000528454.1:c.789C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1054C>T
  hgvsp: ENST00000369840.2:c.1054C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.786C>T
  hgvsp: ENST00000393688.3:c.786C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000529299
  gene symbol: AMPD2
  hgvsc: ENST00000529299.1:n.36C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.627C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1143C>T
  hgvsp: ENST00000256578.3:c.1143C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1143C>T
  hgvsp: ENST00000528667.1:c.1143C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr381Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

1-110170444-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170444
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170444
    reference: chr 1
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1072G>C
  hgvsp: ENSP00000358855.2:p.Gln358His
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.918G>C
  hgvsp: ENSP00000345498.4:p.Gln306His
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.936G>C
  hgvsp: ENSP00000351573.4:p.Gln312His
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.645G>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1161G>C
  hgvsp: ENSP00000256578.3:p.Gln387His
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1200G>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.807G>C
  hgvsp: ENSP00000437164.1:p.Gln269His
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.804G>C
  hgvsp: ENSP00000377292.3:p.Gln268His
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1161G>C
  hgvsp: ENSP00000436541.1:p.Gln387His
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000529299
  gene symbol: AMPD2
  hgvsc: ENST00000529299.1:n.54G>C
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8845
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln387His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

1-110170450-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170450
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170450
    reference: chr 1
allele count: 11
allele frequency: 9.065435965056865e-5
allele num: 121340
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1167T>C
  hgvsp: ENST00000256578.3:c.1167T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.813T>C
  hgvsp: ENST00000528454.1:c.813T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1206T>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.810T>C
  hgvsp: ENST00000393688.3:c.810T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000529299
  gene symbol: AMPD2
  hgvsc: ENST00000529299.1:n.60T>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1078T>C
  hgvsp: ENST00000369840.2:c.1078T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1167T>C
  hgvsp: ENST00000528667.1:c.1167T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.651T>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.942T>C
  hgvsp: ENST00000358729.4:c.942T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.924T>C
  hgvsp: ENST00000342115.4:c.924T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8845
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31088
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His389His
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

1-110170452-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170452
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170452
    reference: chr 1
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.926T>A
  hgvsp: ENSP00000345498.4:p.Val309Glu
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.815T>A
  hgvsp: ENSP00000437164.1:p.Val272Glu
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.653T>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000529299
  gene symbol: AMPD2
  hgvsc: ENST00000529299.1:n.62T>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1169T>A
  hgvsp: ENSP00000256578.3:p.Val390Glu
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.944T>A
  hgvsp: ENSP00000351573.4:p.Val315Glu
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1080T>A
  hgvsp: ENSP00000358855.2:p.Val361Glu
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1169T>A
  hgvsp: ENSP00000436541.1:p.Val390Glu
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1208T>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.812T>A
  hgvsp: ENSP00000377292.3:p.Val271Glu
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31083
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val390Glu
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

1-110170466-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170466
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170466
    reference: chr 1
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000529299
  gene symbol: AMPD2
  hgvsc: ENST00000529299.1:n.76A>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1222A>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.958A>G
  hgvsp: ENSP00000351573.4:p.Met320Val
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1094A>G
  hgvsp: ENSP00000358855.2:p.Met366Val
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.667A>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.940A>G
  hgvsp: ENSP00000345498.4:p.Met314Val
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.826A>G
  hgvsp: ENSP00000377292.3:p.Met276Val
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.829A>G
  hgvsp: ENSP00000437164.1:p.Met277Val
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1183A>G
  hgvsp: ENSP00000256578.3:p.Met395Val
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1183A>G
  hgvsp: ENSP00000436541.1:p.Met395Val
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10266
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met395Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

1-110170467-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170467
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170467
    reference: chr 1
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.830T>C
  hgvsp: ENSP00000437164.1:p.Met277Thr
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000529299
  gene symbol: AMPD2
  hgvsc: ENST00000529299.1:n.77T>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1095T>C
  hgvsp: ENSP00000358855.2:p.Met366Thr
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.941T>C
  hgvsp: ENSP00000345498.4:p.Met314Thr
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.827T>C
  hgvsp: ENSP00000377292.3:p.Met276Thr
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1223T>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1184T>C
  hgvsp: ENSP00000256578.3:p.Met395Thr
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.959T>C
  hgvsp: ENSP00000351573.4:p.Met320Thr
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.668T>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1184T>C
  hgvsp: ENSP00000436541.1:p.Met395Thr
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met395Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

1-110170474-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170474
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170474
    reference: chr 1
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.834G>C
  hgvsp: ENSP00000377292.3:p.Glu278Asp
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.948G>C
  hgvsp: ENSP00000345498.4:p.Glu316Asp
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.675G>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.966G>C
  hgvsp: ENSP00000351573.4:p.Glu322Asp
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1191G>C
  hgvsp: ENSP00000436541.1:p.Glu397Asp
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000529299
  gene symbol: AMPD2
  hgvsc: ENST00000529299.1:n.84G>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1230G>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.837G>C
  hgvsp: ENSP00000437164.1:p.Glu279Asp
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1191G>C
  hgvsp: ENSP00000256578.3:p.Glu397Asp
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1102G>C
  hgvsp: ENSP00000358855.2:p.Glu368Asp
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu397Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

1-110170477-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170477
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170477
    reference: chr 1
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.951G>A
  hgvsp: ENST00000342115.4:c.951G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.840G>A
  hgvsp: ENST00000528454.1:c.840G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.837G>A
  hgvsp: ENST00000393688.3:c.837G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000524975
  gene symbol: AMPD2
  hgvsc: ENST00000524975.1:n.678G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1105G>A
  hgvsp: ENST00000369840.2:c.1105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1194G>A
  hgvsp: ENST00000528667.1:c.1194G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000529299
  gene symbol: AMPD2
  hgvsc: ENST00000529299.1:n.87G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1194G>A
  hgvsp: ENST00000256578.3:c.1194G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.969G>A
  hgvsp: ENST00000358729.4:c.969G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1233G>A
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu398Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

1-110170480-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170480
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170480
    reference: chr 1
allele count: 4
allele frequency: 3.297065611605671e-5
allele num: 121320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1197C>T
  hgvsp: ENST00000528667.1:c.1197C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.840C>T
  hgvsp: ENST00000393688.3:c.840C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.972C>T
  hgvsp: ENST00000358729.4:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1108C>T
  hgvsp: ENST00000369840.2:c.1108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.954C>T
  hgvsp: ENST00000342115.4:c.954C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1197C>T
  hgvsp: ENST00000256578.3:c.1197C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.843C>T
  hgvsp: ENST00000528454.1:c.843C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1236C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000529299
  gene symbol: AMPD2
  hgvsc: ENST00000529299.1:n.90C>T
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2413
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3426
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31091
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Ala399Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum

1-110170483-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170483
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170483
    reference: chr 1
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1200C>G
  hgvsp: ENST00000256578.3:c.1200C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.975C>G
  hgvsp: ENST00000358729.4:c.975C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1200C>G
  hgvsp: ENST00000528667.1:c.1200C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1239C>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.846C>G
  hgvsp: ENST00000528454.1:c.846C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1111C>G
  hgvsp: ENST00000369840.2:c.1111C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000529299
  gene symbol: AMPD2
  hgvsc: ENST00000529299.1:n.93C>G
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.843C>G
  hgvsp: ENST00000393688.3:c.843C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.957C>G
  hgvsp: ENST00000342115.4:c.957C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8850
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3529
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2414
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala400Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum

1-110170486-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170486
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170486
    reference: chr 1
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000529299
  gene symbol: AMPD2
  hgvsc: ENST00000529299.1:n.96G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1114G>A
  hgvsp: ENST00000369840.2:c.1114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.849G>A
  hgvsp: ENST00000528454.1:c.849G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.978G>A
  hgvsp: ENST00000358729.4:c.978G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1203G>A
  hgvsp: ENST00000256578.3:c.1203G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1203G>A
  hgvsp: ENST00000528667.1:c.1203G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.960G>A
  hgvsp: ENST00000342115.4:c.960G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.846G>A
  hgvsp: ENST00000393688.3:c.846G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1242G>A
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 6.75e1
  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: 3949
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln401Gln
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-110170490-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170490
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170490
    reference: chr 1
allele count: 2
allele frequency: 1.648750247312537e-5
allele num: 121304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1118A>C
  hgvsp: ENSP00000358855.2:p.Lys374Gln
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.964A>C
  hgvsp: ENSP00000345498.4:p.Lys322Gln
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.850A>C
  hgvsp: ENSP00000377292.3:p.Lys284Gln
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.853A>C
  hgvsp: ENSP00000437164.1:p.Lys285Gln
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000529299
  gene symbol: AMPD2
  hgvsc: ENST00000529299.1:n.100A>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1207A>C
  hgvsp: ENSP00000256578.3:p.Lys403Gln
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.982A>C
  hgvsp: ENSP00000351573.4:p.Lys328Gln
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1246A>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1207A>C
  hgvsp: ENSP00000436541.1:p.Lys403Gln
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10214
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys403Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum

1-110170495-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170495
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170495
    reference: chr 1
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1212G>T
  hgvsp: ENST00000256578.3:c.1212G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.858G>T
  hgvsp: ENST00000528454.1:c.858G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.969G>T
  hgvsp: ENST00000342115.4:c.969G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1123G>T
  hgvsp: ENST00000369840.2:c.1123G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000529299
  gene symbol: AMPD2
  hgvsc: ENST00000529299.1:n.105G>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.987G>T
  hgvsp: ENST00000358729.4:c.987G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1212G>T
  hgvsp: ENST00000528667.1:c.1212G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1251G>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.855G>T
  hgvsp: ENST00000393688.3:c.855G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7691
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val404Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-110170513-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170513
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170513
    reference: chr 1
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.1005C>A
  hgvsp: ENSP00000351573.4:p.Tyr335Ter
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.876C>A
  hgvsp: ENSP00000437164.1:p.Tyr292Ter
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.873C>A
  hgvsp: ENSP00000377292.3:p.Tyr291Ter
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1141C>A
  hgvsp: ENSP00000358855.2:p.Tyr381Ter
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1230C>A
  hgvsp: ENSP00000256578.3:p.Tyr410Ter
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.987C>A
  hgvsp: ENSP00000345498.4:p.Tyr329Ter
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000529299
  gene symbol: AMPD2
  hgvsc: ENST00000529299.1:n.123C>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1269C>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1230C>A
  hgvsp: ENSP00000436541.1:p.Tyr410Ter
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9249
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3429
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr410Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

1-110170528-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170528
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170528
    reference: chr 1
allele count: 2
allele frequency: 1.651527663088357e-5
allele num: 121100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.999+3G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1153+3G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.1017+3G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1242+3G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1242+3G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1281+3G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000529299
  gene symbol: AMPD2
  hgvsc: ENST00000529299.1:n.135+3G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.888+3G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.885+3G>A
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7693
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3520
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1242+3G>A
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-110170532-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170532
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170532
    reference: chr 1
allele count: 1
allele frequency: 8.261322141995606e-6
allele num: 121046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1153+7C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.885+7C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.1017+7C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.999+7C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1281+7C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1242+7C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000529299
  gene symbol: AMPD2
  hgvsc: ENST00000529299.1:n.135+7C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.888+7C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1242+7C>T
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8852
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1242+7C>T
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

1-110170534-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170534
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170534
    reference: chr 1
allele count: 283
allele frequency: 2.338495099902494e-3
allele num: 121018
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000529299
  gene symbol: AMPD2
  hgvsc: ENST00000529299.1:n.135+9T>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1242+9T>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.1017+9T>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.999+9T>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1242+9T>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1281+9T>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.888+9T>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1153+9T>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.885+9T>C
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 5.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 8136
  bin: 2.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 8842
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 6697
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 9213
  bin: 3.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 7686
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 6.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 2428
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 3
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

1-110170538-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170538
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170538
    reference: chr 1
allele count: 1
allele frequency: 8.269793751343841e-6
allele num: 120922
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000529299
  gene symbol: AMPD2
  hgvsc: ENST00000529299.1:n.135+13C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1153+13C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.885+13C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1281+13C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.888+13C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.1017+13C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1242+13C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1242+13C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.999+13C>T
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3422
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD

1-110170540-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170540
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170540
    reference: chr 1
allele count: 45
allele frequency: 3.721961225435056e-4
allele num: 120904
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1153+15C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000529299
  gene symbol: AMPD2
  hgvsc: ENST00000529299.1:n.135+15C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1281+15C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.888+15C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1242+15C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.999+15C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1242+15C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.885+15C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.1017+15C>T
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7676
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 8834
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2418
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8297
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

1-110170541-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170541
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170541
    reference: chr 1
allele count: 4
allele frequency: 3.308738378056447e-5
allele num: 120892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.885+16G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1153+16G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.1017+16G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.999+16G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1281+16G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.888+16G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1242+16G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1242+16G>A
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000529299
  gene symbol: AMPD2
  hgvsc: ENST00000529299.1:n.135+16G>A
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9150
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8271
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2426
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3493
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

1-110170541-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170541
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170541
    reference: chr 1
allele count: 1
allele frequency: 8.271845945141119e-6
allele num: 120892
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1281+16G>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.1017+16G>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1153+16G>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.888+16G>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000529299
  gene symbol: AMPD2
  hgvsc: ENST00000529299.1:n.135+16G>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1242+16G>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.885+16G>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1242+16G>C
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.999+16G>C
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

1-110170546-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110170546
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110170546
    reference: chr 1
allele count: 5
allele frequency: 4.137360364087712e-5
allele num: 120850
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000377292
  ensembl transcript: ENST00000393688
  gene symbol: AMPD2
  hgvsc: ENST00000393688.3:c.885+21C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000351573
  ensembl transcript: ENST00000358729
  gene symbol: AMPD2
  hgvsc: ENST00000358729.4:c.1017+21C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000436541
  ensembl transcript: ENST00000528667
  gene symbol: AMPD2
  hgvsc: ENST00000528667.1:c.1242+21C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000529299
  gene symbol: AMPD2
  hgvsc: ENST00000529299.1:n.135+21C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl transcript: ENST00000526301
  gene symbol: AMPD2
  hgvsc: ENST00000526301.1:n.1281+21C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000358855
  ensembl transcript: ENST00000369840
  gene symbol: AMPD2
  hgvsc: ENST00000369840.2:c.1153+21C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000437164
  ensembl transcript: ENST00000528454
  gene symbol: AMPD2
  hgvsc: ENST00000528454.1:c.888+21C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000256578
  ensembl transcript: ENST00000256578
  gene symbol: AMPD2
  hgvsc: ENST00000256578.3:c.1242+21C>T
  variant of: http://identifiers.org/hgnc/469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116337
  ensembl protein: ENSP00000345498
  ensembl transcript: ENST00000342115
  gene symbol: AMPD2
  hgvsc: ENST00000342115.4:c.999+21C>T
  variant of: http://identifiers.org/hgnc/469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7837
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

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

GenotypeQuality
all individuals: 305
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2571
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53408
bin: 9.75e1
variant carriers: 34

GenotypeQuality
all individuals: 477
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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: 16200
num of homozygotes: 0

East Asian
type: Population
allele count: 34
allele frequency: 3.92881904321701e-3
allele num: 8654
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502900598154438e-5
allele num: 66538
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.63e-2

QD
type: SiteQuality
SIO_000300: 1.529e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

FS
type: SiteQuality
SIO_000300: 5.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

DP
type: SiteQuality
SIO_000300: 5.681339e6

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

GenotypeQuality
all individuals: 876
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53409
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 335
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 6
allele frequency: 9.019843656043295e-5
allele num: 66520
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.011e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 5.68322e6

FS
type: SiteQuality
SIO_000300: 1.116e0

QD
type: SiteQuality
SIO_000300: 1.298e1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.03e-1

GenotypeQuality
all individuals: 309
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 124
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2697
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53436
bin: 9.75e1
variant carriers: 67

GenotypeQuality
all individuals: 113
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.508295263284443e-5
allele num: 66544
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

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

South Asian
type: Population
allele count: 61
allele frequency: 3.755232701305097e-3
allele num: 16244
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.39e0

DP
type: SiteQuality
SIO_000300: 5.68469e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-2

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

QD
type: SiteQuality
SIO_000300: 1.374e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

GenotypeQuality
all individuals: 3910
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13054
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5148
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2586
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7093
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 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: 10402
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
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: 66672
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.441e1

FS
type: SiteQuality
SIO_000300: 4.768e0

DP
type: SiteQuality
SIO_000300: 2.523319e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.399999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.878e0

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

GenotypeQuality
all individuals: 7096
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4732
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3908
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13122
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3445
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19720
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5120
bin: 7.75e1
variant carriers: 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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.487e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.13e-1

DP
type: SiteQuality
SIO_000300: 2.522964e6

QD
type: SiteQuality
SIO_000300: 8.890000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 151
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13285
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19717
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 127
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2585
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3445
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3903
bin: 9.25e1
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: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000390050706592e-5
allele num: 66658
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.153e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 1.3971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-1

QD
type: SiteQuality
SIO_000300: 1.411e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.785e0

MQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

DP
type: SiteQuality
SIO_000300: 2.523337e6

GenotypeQuality
all individuals: 49
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7181
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13840
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19703
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3467
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5120
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2575
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4740
bin: 8.25e1
variant carriers: 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: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
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: 0
allele frequency: 0.0e0
allele num: 66690
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: 11576
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.11e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.973e0

DP
type: SiteQuality
SIO_000300: 2.526871e6

VQSLOD
type: SiteQuality
SIO_000300: 7.01e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

FS
type: SiteQuality
SIO_000300: 4.006e0

MQ
type: SiteQuality
SIO_000300: 5.935e1

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3467
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.99895036737142e-5
allele num: 66690
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
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SIO_000300: 1.72e-1

MQ
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SIO_000300: 5.935e1

BaseQRankSum
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SIO_000300: -1.973e0

MQRankSum
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SIO_000300: -9.8e-2

FS
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ClippingRankSum
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QD
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InbreedingCoeff
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SIO_000300: 2.0e-4

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 7.01e-1

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.99895036737142e-5
allele num: 66690
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
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 count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQRankSum
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MQ
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BaseQRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.526888e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

FS
type: SiteQuality
SIO_000300: 1.793e0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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DP
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MQRankSum
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FS
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.238e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.48e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9.75e1
variant carriers: 1

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.61e0

MQRankSum
type: SiteQuality
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DP
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InbreedingCoeff
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MQ
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.431e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

South Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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Other
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VQSLOD
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QD
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ReadPosRankSum
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FS
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ClippingRankSum
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MQRankSum
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DP
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BaseQRankSum
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MQ
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
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num of homozygotes: 0

Other
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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African
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South Asian
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QD
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VQSLOD
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BaseQRankSum
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FS
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MQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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allele frequency: 9.619084263178146e-5
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.074080893635304e-4
allele num: 65172
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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African
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allele frequency: 1.988862370723946e-4
allele num: 10056
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East Asian
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allele frequency: 2.329373398555789e-4
allele num: 8586
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South Asian
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Latino
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allele frequency: 0.0e0
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VQSLOD
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InbreedingCoeff
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QD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
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African
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allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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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
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MQRankSum
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QD
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ClippingRankSum
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MQ
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BaseQRankSum
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VQSLOD
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FS
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DP
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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Latino
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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: 66724
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Other
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South Asian
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allele frequency: 3.633720930232558e-4
allele num: 16512
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10406
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FS
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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MQRankSum
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DP
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VQSLOD
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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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: 66724
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.52e0

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e0

DP
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MQRankSum
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BaseQRankSum
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SIO_000300: 3.76e0

InbreedingCoeff
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SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQ
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SIO_000300: 5.921e1

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

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

East Asian
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allele count: 50
allele frequency: 5.779010633379565e-3
allele num: 8652
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South Asian
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allele frequency: 1.211240310077519e-4
allele num: 16512
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Other
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allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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Latino
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allele count: 0
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MQRankSum
type: SiteQuality
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DP
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InbreedingCoeff
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FS
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MQ
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QD
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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allele num: 8654
num of homozygotes: 0

Latino
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South Asian
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allele frequency: 1.695736434108527e-3
allele num: 16512
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Other
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European (Non-Finnish)
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allele frequency: 1.498711108446736e-5
allele num: 66724
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European (Finnish)
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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ReadPosRankSum
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FS
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MQ
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DP
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -7.301e-1

DP
type: SiteQuality
SIO_000300: 2.486277e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.05e-1

MQ
type: SiteQuality
SIO_000300: 5.912e1

QD
type: SiteQuality
SIO_000300: 1.725e1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.486231e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

BaseQRankSum
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SIO_000300: -2.607e0

FS
type: SiteQuality
SIO_000300: 5.176e0

MQ
type: SiteQuality
SIO_000300: 5.9e1

QD
type: SiteQuality
SIO_000300: 1.244e1

VQSLOD
type: SiteQuality
SIO_000300: -2.032e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.215e0

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997781641585227e-5
allele num: 66716
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.395e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.649999999999999e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.72e0

DP
type: SiteQuality
SIO_000300: 2.485216e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.1e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

QD
type: SiteQuality
SIO_000300: 1.272e1

DP
type: SiteQuality
SIO_000300: 2.482599e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.213e0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.923076923076923e-4
allele num: 10400
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.475159e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e-1

QD
type: SiteQuality
SIO_000300: 1.483e1

FS
type: SiteQuality
SIO_000300: 7.654e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.976e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.258e0

MQRankSum
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SIO_000300: -1.171e0

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

South Asian
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allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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QD
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MQRankSum
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DP
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FS
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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MQ
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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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: 66674
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11560
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VQSLOD
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SIO_000300: 3.77e0

InbreedingCoeff
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MQRankSum
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ClippingRankSum
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MQ
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DP
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QD
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BaseQRankSum
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

South Asian
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allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
type: Population
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

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

African
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allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

Latino
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allele count: 7
allele frequency: 6.064806792583608e-4
allele num: 11542
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

VQSLOD
type: SiteQuality
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InbreedingCoeff
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FS
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QD
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BaseQRankSum
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MQRankSum
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DP
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MQ
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

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

QD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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DP
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FS
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VQSLOD
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BaseQRankSum
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MQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.515748628247491e-5
allele num: 65974
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 15404
num of homozygotes: 0

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

FS
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: -8.89e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

African
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allele count: 6
allele frequency: 5.89159465828751e-4
allele num: 10184
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65966
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.08e-1

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

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
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SIO_000300: 2.324462e6

FS
type: SiteQuality
SIO_000300: 5.036e0

BaseQRankSum
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SIO_000300: 2.26e0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15432
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65980
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.51e-1

BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

FS
type: SiteQuality
SIO_000300: 2.889e0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 6.2e-2

MQ
type: SiteQuality
SIO_000300: 5.855e1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66078
num of homozygotes: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.379992344009187e-5
allele num: 15674
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DP
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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QD
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FS
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.512950859356088e-5
allele num: 66096
num of homozygotes: 0

South Asian
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allele num: 15718
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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MQ
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
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num of homozygotes: 0

Other
type: Population
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Latino
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African
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East Asian
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European (Non-Finnish)
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allele num: 66120
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European (Finnish)
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MQ
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
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MQRankSum
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FS
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InbreedingCoeff
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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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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allele num: 15980
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East Asian
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Other
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QD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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SIO_000300: -3.399e0

FS
type: SiteQuality
SIO_000300: 3.52e0

VQSLOD
type: SiteQuality
SIO_000300: -1.688e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.552e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.37376e6

MQ
type: SiteQuality
SIO_000300: 5.851e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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: 10336
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66336
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.199628022318661e-5
allele num: 16130
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 8.93e0

VQSLOD
type: SiteQuality
SIO_000300: 1.5e-1

FS
type: SiteQuality
SIO_000300: 2.602e0

MQRankSum
type: SiteQuality
SIO_000300: -6.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.963e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.55e-1

DP
type: SiteQuality
SIO_000300: 2.381056e6

GenotypeQuality
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variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 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: 66540
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.073120369245719e-5
allele num: 16466
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.94e-1

MQ
type: SiteQuality
SIO_000300: 5.823e1

DP
type: SiteQuality
SIO_000300: 2.39346e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 1.307e0

MQRankSum
type: SiteQuality
SIO_000300: -6.42e-1

QD
type: SiteQuality
SIO_000300: 8.800000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.154e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.073120369245719e-5
allele num: 16466
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.307e0

MQ
type: SiteQuality
SIO_000300: 5.823e1

MQRankSum
type: SiteQuality
SIO_000300: -6.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.1e-2

DP
type: SiteQuality
SIO_000300: 2.39346e6

VQSLOD
type: SiteQuality
SIO_000300: -2.154e0

QD
type: SiteQuality
SIO_000300: 8.800000000000001e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.507346975570179e-5
allele num: 66558
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.155e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 7.672e0

DP
type: SiteQuality
SIO_000300: 2.394247e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.57e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502042778178322e-5
allele num: 66576
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501726986033939e-5
allele num: 66590
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.771e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6606
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South Asian
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allele count: 0
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African
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allele frequency: 0.0e0
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Latino
type: Population
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Other
type: Population
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DP
type: SiteQuality
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MQRankSum
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VQSLOD
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BaseQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.999580058791769e-5
allele num: 66676
num of homozygotes: 0

African
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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

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

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

Other
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allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

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

MQ
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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QD
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SIO_000300: 1.519e1

DP
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MQRankSum
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SIO_000300: -3.09e-1

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

DP
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQRankSum
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QD
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66670
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
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DP
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InbreedingCoeff
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ClippingRankSum
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QD
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VQSLOD
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MQ
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

Other
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allele num: 906
num of homozygotes: 0

South Asian
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allele count: 1
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allele num: 16510
num of homozygotes: 0

QD
type: SiteQuality
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InbreedingCoeff
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DP
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SIO_000300: 2.398219e6

BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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MQ
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FS
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

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

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

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

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

FS
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DP
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QD
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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MQRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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East Asian
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African
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allele num: 10364
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Latino
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VQSLOD
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ReadPosRankSum
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MQRankSum
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FS
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DP
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MQ
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QD
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Non-Finnish)
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South Asian
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European (Finnish)
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East Asian
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Other
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BaseQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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DP
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

Latino
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Other
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South Asian
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005168890491646e-5
allele num: 66552
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.654373431164318e-5
allele num: 10358
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

QD
type: SiteQuality
SIO_000300: 1.239e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 1.795e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.02e-2

DP
type: SiteQuality
SIO_000300: 2.393999e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.98e0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3777
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2419
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3313
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8378
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31174
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 733
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503352476021528e-5
allele num: 66518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16324
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.924e0

MQ
type: SiteQuality
SIO_000300: 5.879e1

VQSLOD
type: SiteQuality
SIO_000300: -2.244e0

DP
type: SiteQuality
SIO_000300: 2.385907e6

FS
type: SiteQuality
SIO_000300: 2.329e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

QD
type: SiteQuality
SIO_000300: 1.032e1

GenotypeQuality
all individuals: 316
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3417
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3761
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31189
bin: 9.75e1
variant carriers: 45

GenotypeQuality
all individuals: 3312
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2426
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3494
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16308
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: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 44
allele frequency: 6.614949786517529e-4
allele num: 66516
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.100000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 5.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-2

QD
type: SiteQuality
SIO_000300: 1.823e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.75e-1

DP
type: SiteQuality
SIO_000300: 2.387115e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
all individuals: 152
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3417
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2419
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 773
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3312
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3754
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31185
bin: 9.75e1
variant carriers: 4

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.014133213050669e-5
allele num: 66510
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.15e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

DP
type: SiteQuality
SIO_000300: 2.38567e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.76e-1

QD
type: SiteQuality
SIO_000300: 1.136e1

FS
type: SiteQuality
SIO_000300: 3.257e0

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

GenotypeQuality
all individuals: 2419
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3493
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31185
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3417
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2426
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 141
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8271
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 773
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3754
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503533303262667e-5
allele num: 66510
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
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: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

DP
type: SiteQuality
SIO_000300: 2.38567e6

QD
type: SiteQuality
SIO_000300: 1.136e1

FS
type: SiteQuality
SIO_000300: 3.257e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.15e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4