5-33989372-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989372
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989372
    reference: chr 5
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.930C>T
  hgvsp: ENST00000502637.1:c.930C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*217C>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.975C>T
  hgvsp: ENST00000382085.3:c.975C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*297C>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*401C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.975C>T
  hgvsp: ENST00000335606.6:c.975C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.869C>T
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3640
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro325Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

5-33989375-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989375
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989375
    reference: chr 5
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*214C>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.972C>T
  hgvsp: ENST00000335606.6:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*294C>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.866C>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.972C>T
  hgvsp: ENST00000382085.3:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.927C>T
  hgvsp: ENST00000502637.1:c.927C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*398C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12528
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3639
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23883
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3910
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4943
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser324Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

5-33989381-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989381
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989381
    reference: chr 5
allele count: 6
allele frequency: 4.942176534545814e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*208C>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.966C>T
  hgvsp: ENST00000382085.3:c.966C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.921C>T
  hgvsp: ENST00000502637.1:c.921C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*392C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.966C>T
  hgvsp: ENST00000335606.6:c.966C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*288C>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.860C>T
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23872
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp322Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ

5-33989381-GTCCTGCTCCTCACTGGTGATAAACGAGCCCCGT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989381
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989348
    reference: chr 5
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsp: ENSP00000424351.1:p.Glu296_Gln306del
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsp: ENSP00000334424.6:p.Glu311_Gln321del
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsp: ENSP00000371517.3:p.Glu311_Gln321del
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3637
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3911
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7544
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu311_Gln321del
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: GTCCTGCTCCTCACTGGTGATAAACGAGCCCCGT
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-33989382-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989382
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989382
    reference: chr 5
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.965A>T
  hgvsp: ENSP00000334424.6:p.Asp322Val
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*207A>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*287A>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.965A>T
  hgvsp: ENSP00000371517.3:p.Asp322Val
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.920A>T
  hgvsp: ENSP00000424351.1:p.Asp307Val
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.859A>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*391A>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12537
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3638
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp322Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

5-33989382-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989382
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989382
    reference: chr 5
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.920A>G
  hgvsp: ENSP00000424351.1:p.Asp307Gly
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.965A>G
  hgvsp: ENSP00000334424.6:p.Asp322Gly
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.965A>G
  hgvsp: ENSP00000371517.3:p.Asp322Gly
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*207A>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*287A>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*391A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.859A>G
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3912
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp322Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

5-33989390-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989390
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989390
    reference: chr 5
allele count: 4
allele frequency: 3.294784356363876e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.957G>A
  hgvsp: ENST00000335606.6:c.957G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*279G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*199G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.851G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.912G>A
  hgvsp: ENST00000502637.1:c.912G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.957G>A
  hgvsp: ENST00000382085.3:c.957G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*383G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3912
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12540
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu319Glu
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

5-33989395-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989395
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989395
    reference: chr 5
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.846A>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.952A>C
  hgvsp: ENSP00000371517.3:p.Ser318Arg
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*378A>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*274A>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.907A>C
  hgvsp: ENSP00000424351.1:p.Ser303Arg
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*194A>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.952A>C
  hgvsp: ENSP00000334424.6:p.Ser318Arg
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23876
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser318Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

5-33989396-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989396
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989396
    reference: chr 5
allele count: 3
allele frequency: 2.471128976458378e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*273C>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.906C>T
  hgvsp: ENST00000502637.1:c.906C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.951C>T
  hgvsp: ENST00000382085.3:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*193C>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*377C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.951C>T
  hgvsp: ENST00000335606.6:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.845C>T
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3911
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr317Thr
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS

5-33989403-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989403
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989403
    reference: chr 5
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*266T>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.944T>A
  hgvsp: ENSP00000371517.3:p.Phe315Tyr
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.838T>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*370T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.899T>A
  hgvsp: ENSP00000424351.1:p.Phe300Tyr
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.944T>A
  hgvsp: ENSP00000334424.6:p.Phe315Tyr
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*186T>A
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3642
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23865
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3912
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4949
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12539
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Phe315Tyr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

5-33989404-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989404
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989404
    reference: chr 5
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.898T>C
  hgvsp: ENSP00000424351.1:p.Phe300Leu
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.943T>C
  hgvsp: ENSP00000371517.3:p.Phe315Leu
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*185T>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*265T>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*369T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.943T>C
  hgvsp: ENSP00000334424.6:p.Phe315Leu
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.837T>C
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3642
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23855
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe315Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

5-33989405-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989405
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989405
    reference: chr 5
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*184G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*264G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.942G>A
  hgvsp: ENST00000335606.6:c.942G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.942G>A
  hgvsp: ENST00000382085.3:c.942G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.897G>A
  hgvsp: ENST00000502637.1:c.897G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*368G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.836G>A
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3642
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4948
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser314Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

5-33989406-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989406
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989406
    reference: chr 5
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.941C>T
  hgvsp: ENSP00000371517.3:p.Ser314Leu
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.835C>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.941C>T
  hgvsp: ENSP00000334424.6:p.Ser314Leu
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*183C>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*367C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.896C>T
  hgvsp: ENSP00000424351.1:p.Ser299Leu
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*263C>T
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8901
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser314Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum

5-33989408-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989408
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989408
    reference: chr 5
allele count: 4
allele frequency: 3.294784356363876e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*181C>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*261C>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.833C>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.939C>T
  hgvsp: ENST00000335606.6:c.939C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*365C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.894C>T
  hgvsp: ENST00000502637.1:c.894C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.939C>T
  hgvsp: ENST00000382085.3:c.939C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14933
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4948
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7554
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly313Gly
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

5-33989412-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989412
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989412
    reference: chr 5
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.829G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*361G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*257G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.935G>A
  hgvsp: ENSP00000371517.3:p.Arg312Gln
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.890G>A
  hgvsp: ENSP00000424351.1:p.Arg297Gln
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.935G>A
  hgvsp: ENSP00000334424.6:p.Arg312Gln
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*177G>A
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12543
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3643
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg312Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

5-33989413-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989413
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989413
    reference: chr 5
allele count: 4
allele frequency: 3.294838635277837e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.889C>T
  hgvsp: ENSP00000424351.1:p.Arg297Trp
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*176C>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.828C>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.934C>T
  hgvsp: ENSP00000371517.3:p.Arg312Trp
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*256C>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.934C>T
  hgvsp: ENSP00000334424.6:p.Arg312Trp
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*360C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12548
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3644
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg312Trp
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

5-33989417-CTTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989417
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989414
    reference: chr 5
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*249_*251delCAA
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*353_*355delCAA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*169_*171delCAA
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.927_929delCAA
  hgvsp: ENSP00000334424.6:p.Asn309del
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.927_929delCAA
  hgvsp: ENSP00000371517.3:p.Asn309del
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.821_823delCAA
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.882_884delCAA
  hgvsp: ENSP00000424351.1:p.Asn294del
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14937
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn309del
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: CTTG
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

5-33989429-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989429
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989429
    reference: chr 5
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*240T>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*160T>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.918T>A
  hgvsp: ENSP00000334424.6:p.His306Gln
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.918T>A
  hgvsp: ENSP00000371517.3:p.His306Gln
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.873T>A
  hgvsp: ENSP00000424351.1:p.His291Gln
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.812T>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*344T>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3915
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  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: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3646
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His306Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

5-33989434-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989434
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989434
    reference: chr 5
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*155C>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.868C>T
  hgvsp: ENSP00000424351.1:p.His290Tyr
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.913C>T
  hgvsp: ENSP00000334424.6:p.His305Tyr
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*339C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.913C>T
  hgvsp: ENSP00000371517.3:p.His305Tyr
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.807C>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*235C>T
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23902
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His305Tyr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/5-33989437-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989437
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989437
    reference: chr 5
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*152G>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.865G>T
  hgvsp: ENSP00000424351.1:p.Val289Phe
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.910G>T
  hgvsp: ENSP00000371517.3:p.Val304Phe
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*336G>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*232G>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.910G>T
  hgvsp: ENSP00000334424.6:p.Val304Phe
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.804G>T
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12554
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  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
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val304Phe
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

5-33989437-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989437
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989437
    reference: chr 5
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.910G>A
  hgvsp: ENSP00000334424.6:p.Val304Ile
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.865G>A
  hgvsp: ENSP00000424351.1:p.Val289Ile
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*152G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*232G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.910G>A
  hgvsp: ENSP00000371517.3:p.Val304Ile
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*336G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.804G>A
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14943
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12554
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23904
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val304Ile
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

5-33989460-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989460
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989460
    reference: chr 5
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.887C>T
  hgvsp: ENSP00000371517.3:p.Pro296Leu
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*129C>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.842C>T
  hgvsp: ENSP00000424351.1:p.Pro281Leu
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*313C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.781C>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*209C>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.887C>T
  hgvsp: ENSP00000334424.6:p.Pro296Leu
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3917
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23900
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro296Leu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

5-33989479-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989479
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989479
    reference: chr 5
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.868A>G
  hgvsp: ENSP00000371517.3:p.Thr290Ala
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.762A>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.823A>G
  hgvsp: ENSP00000424351.1:p.Thr275Ala
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*294A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.868A>G
  hgvsp: ENSP00000334424.6:p.Thr290Ala
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*110A>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*190A>G
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4949
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23899
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3646
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr290Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

5-33989482-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989482
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989482
    reference: chr 5
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.865G>A
  hgvsp: ENSP00000334424.6:p.Gly289Ser
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*187G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.865G>A
  hgvsp: ENSP00000371517.3:p.Gly289Ser
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.820G>A
  hgvsp: ENSP00000424351.1:p.Gly274Ser
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.759G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*107G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*291G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly289Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

5-33989483-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989483
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989483
    reference: chr 5
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.864C>T
  hgvsp: ENST00000335606.6:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*186C>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.864C>T
  hgvsp: ENST00000382085.3:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*106C>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.819C>T
  hgvsp: ENST00000502637.1:c.819C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.758C>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*290C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3641
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7557
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp288Asp
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

5-33989489-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989489
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989488
    reference: chr 5
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.812delT
  hgvsp: ENSP00000424351.1:p.Ile271ThrfsTer9
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*283delT
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.857delT
  hgvsp: ENSP00000371517.3:p.Ile286ThrfsTer9
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.751delT
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.857delT
  hgvsp: ENSP00000334424.6:p.Ile286ThrfsTer9
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*99delT
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*179delT
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4945
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23873
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12569
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7555
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile286ThrfsTer9
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: GA
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/5-33989501-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989501
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989501
    reference: chr 5
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*168G>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.846G>T
  hgvsp: ENSP00000371517.3:p.Glu282Asp
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.740G>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*272G>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*88G>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.801G>T
  hgvsp: ENSP00000424351.1:p.Glu267Asp
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.846G>T
  hgvsp: ENSP00000334424.6:p.Glu282Asp
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3915
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4940
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23790
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu282Asp
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

5-33989503-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989503
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989503
    reference: chr 5
allele count: 79
allele frequency: 6.507199103818655e-4
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.738G>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.799G>C
  hgvsp: ENSP00000424351.1:p.Glu267Gln
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*270G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.844G>C
  hgvsp: ENSP00000371517.3:p.Glu282Gln
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.844G>C
  hgvsp: ENSP00000334424.6:p.Glu282Gln
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*86G>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*166G>C
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 8887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4936
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23701
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu282Gln
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

5-33989504-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989504
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989504
    reference: chr 5
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*269A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*165A>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*85A>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.737A>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.843A>G
  hgvsp: ENST00000335606.6:c.843A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.843A>G
  hgvsp: ENST00000382085.3:c.843A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.798A>G
  hgvsp: ENST00000502637.1:c.798A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3636
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7527
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23716
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4939
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala281Ala
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

5-33989506-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989506
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989506
    reference: chr 5
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*163G>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*267G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.841G>C
  hgvsp: ENSP00000334424.6:p.Ala281Pro
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.796G>C
  hgvsp: ENSP00000424351.1:p.Ala266Pro
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.735G>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.841G>C
  hgvsp: ENSP00000371517.3:p.Ala281Pro
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*83G>C
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7523
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3636
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23663
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4937
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala281Pro
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-33989508-T-TTCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989508
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989511
    reference: chr 5
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: TTCG
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.791_793dupCGA
  hgvsp: ENSP00000424351.1:p.Thr264dup
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.836_838dupCGA
  hgvsp: ENSP00000371517.3:p.Thr279dup
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.836_838dupCGA
  hgvsp: ENSP00000334424.6:p.Thr279dup
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*78_*80dupCGA
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*262_*264dupCGA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*158_*160dupCGA
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.730_732dupCGA
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7526
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12648
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4938
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr279dup
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

5-33989510-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989510
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989510
    reference: chr 5
allele count: 162
allele frequency: 1.334409647287524e-3
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.792G>A
  hgvsp: ENST00000502637.1:c.792G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.837G>A
  hgvsp: ENST00000335606.6:c.837G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*159G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*79G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.731G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*263G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.837G>A
  hgvsp: ENST00000382085.3:c.837G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 14844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 5.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 8863
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr279Thr
num of homozygotes: 3
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

5-33989511-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989511
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989511
    reference: chr 5
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.836C>T
  hgvsp: ENSP00000334424.6:p.Thr279Met
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.791C>T
  hgvsp: ENSP00000424351.1:p.Thr264Met
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*158C>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*78C>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.730C>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.836C>T
  hgvsp: ENSP00000371517.3:p.Thr279Met
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*262C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4933
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr279Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

5-33989518-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989518
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989518
    reference: chr 5
allele count: 85141
allele frequency: 7.016035994462391e-1
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.723G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.829G>A
  hgvsp: ENSP00000334424.6:p.Glu277Lys
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.784G>A
  hgvsp: ENSP00000424351.1:p.Glu262Lys
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*255G>A
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.829G>A
  hgvsp: ENSP00000371517.3:p.Glu277Lys
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*71G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*151G>A
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 2.75e1
  variant carriers: 455
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 2.25e1
  variant carriers: 163
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 8.25e1
  variant carriers: 2637
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 3.75e1
  variant carriers: 1697
genotype depth: GenotypeDepth
  all individuals: 6528
  bin: 9.75e1
  variant carriers: 6520
genotype depth: GenotypeDepth
  all individuals: 5282
  bin: 5.25e1
  variant carriers: 5248
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 5759
  bin: 6.75e1
  variant carriers: 5745
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 6065
  bin: 5.75e1
  variant carriers: 6035
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 3.25e1
  variant carriers: 911
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 4.25e1
  variant carriers: 2844
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 4.75e1
  variant carriers: 4048
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 8.75e1
  variant carriers: 1968
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 7.25e1
  variant carriers: 4700
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 7.75e1
  variant carriers: 3741
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 9.25e1
  variant carriers: 1372
genotype depth: GenotypeDepth
  all individuals: 6160
  bin: 6.25e1
  variant carriers: 6150
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 6.75e1
  variant carriers: 71
hgvs: p.Glu277Lys
num of homozygotes: 30827
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum

5-33989519-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989519
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989519
    reference: chr 5
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.783A>C
  hgvsp: ENST00000502637.1:c.783A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*150A>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.722A>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.828A>C
  hgvsp: ENST00000382085.3:c.828A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.828A>C
  hgvsp: ENST00000335606.6:c.828A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*70A>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*254A>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8555
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala276Ala
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

5-33989521-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989521
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989521
    reference: chr 5
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.781G>C
  hgvsp: ENSP00000424351.1:p.Ala261Pro
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.826G>C
  hgvsp: ENSP00000334424.6:p.Ala276Pro
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*252G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.826G>C
  hgvsp: ENSP00000371517.3:p.Ala276Pro
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*68G>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.720G>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*148G>C
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala276Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/5-33989527-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989527
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989527
    reference: chr 5
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*62G>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*142G>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*246G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.775G>T
  hgvsp: ENSP00000424351.1:p.Val259Leu
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.714G>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.820G>T
  hgvsp: ENSP00000334424.6:p.Val274Leu
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.820G>T
  hgvsp: ENSP00000371517.3:p.Val274Leu
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30791
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43076
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8511
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val274Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/5-33989534-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989534
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989534
    reference: chr 5
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.813T>G
  hgvsp: ENSP00000371517.3:p.Phe271Leu
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.813T>G
  hgvsp: ENSP00000334424.6:p.Phe271Leu
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*55T>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*239T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.707T>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.768T>G
  hgvsp: ENSP00000424351.1:p.Phe256Leu
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*135T>G
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8487
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2672
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe271Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

5-33989541-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989541
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989541
    reference: chr 5
allele count: 2
allele frequency: 1.649838315845047e-5
allele num: 121224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.806A>T
  hgvsp: ENSP00000334424.6:p.Lys269Met
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*128A>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.700A>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.761A>T
  hgvsp: ENSP00000424351.1:p.Lys254Met
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*48A>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*232A>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.806A>T
  hgvsp: ENSP00000371517.3:p.Lys269Met
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2665
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8448
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys269Met
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD

5-33989544-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989544
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989544
    reference: chr 5
allele count: 2
allele frequency: 1.650083329208125e-5
allele num: 121206
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*229A>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*125A>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.758A>T
  hgvsp: ENSP00000424351.1:p.Lys253Met
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.803A>T
  hgvsp: ENSP00000334424.6:p.Lys268Met
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.697A>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.803A>T
  hgvsp: ENSP00000371517.3:p.Lys268Met
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*45A>T
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2661
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys268Met
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

5-33989544-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989544
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989544
    reference: chr 5
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.803A>C
  hgvsp: ENSP00000334424.6:p.Lys268Thr
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.803A>C
  hgvsp: ENSP00000371517.3:p.Lys268Thr
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*229A>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*125A>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.758A>C
  hgvsp: ENSP00000424351.1:p.Lys253Thr
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.697A>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*45A>C
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43180
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2661
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys268Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-33989544-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989544
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989544
    reference: chr 5
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*125A>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.803A>G
  hgvsp: ENSP00000371517.3:p.Lys268Arg
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*45A>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.758A>G
  hgvsp: ENSP00000424351.1:p.Lys253Arg
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.803A>G
  hgvsp: ENSP00000334424.6:p.Lys268Arg
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.697A>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*229A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8438
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys268Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum

5-33989547-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989547
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989547
    reference: chr 5
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*122T>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.755T>C
  hgvsp: ENSP00000424351.1:p.Met252Thr
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.800T>C
  hgvsp: ENSP00000334424.6:p.Met267Thr
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.694T>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*226T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.800T>C
  hgvsp: ENSP00000371517.3:p.Met267Thr
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*42T>C
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13524
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2655
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1914
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1783
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Met267Thr
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/5-33989557-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989557
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989557
    reference: chr 5
allele count: 1
allele frequency: 8.257774694875225e-6
allele num: 121098
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.790T>G
  hgvsp: ENSP00000334424.6:p.Trp264Gly
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*112T>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.745T>G
  hgvsp: ENSP00000424351.1:p.Trp249Gly
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.684T>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*216T>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.790T>G
  hgvsp: ENSP00000371517.3:p.Trp264Gly
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*32T>G
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8384
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43283
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Trp264Gly
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQ

5-33989561-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989561
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989561
    reference: chr 5
allele count: 1
allele frequency: 8.264599414866361e-6
allele num: 120998
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.680T>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*212T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.786T>A
  hgvsp: ENSP00000334424.6:p.Asp262Glu
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.786T>A
  hgvsp: ENSP00000371517.3:p.Asp262Glu
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*28T>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.741T>A
  hgvsp: ENSP00000424351.1:p.Asp247Glu
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*108T>A
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13406
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8336
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43226
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp262Glu
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

5-33989562-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989562
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989562
    reference: chr 5
allele count: 3
allele frequency: 2.479379824459908e-5
allele num: 120998
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*211A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.785A>G
  hgvsp: ENSP00000371517.3:p.Asp262Gly
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*27A>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.679A>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.785A>G
  hgvsp: ENSP00000334424.6:p.Asp262Gly
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*107A>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.740A>G
  hgvsp: ENSP00000424351.1:p.Asp247Gly
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43265
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp262Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-33989564-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989564
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989564
    reference: chr 5
allele count: 1
allele frequency: 8.265145879824779e-6
allele num: 120990
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*105G>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.738G>T
  hgvsp: ENSP00000424351.1:p.Met246Ile
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.677G>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*25G>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.783G>T
  hgvsp: ENSP00000334424.6:p.Met261Ile
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.783G>T
  hgvsp: ENSP00000371517.3:p.Met261Ile
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*209G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43354
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met261Ile
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

5-33989564-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989564
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989564
    reference: chr 5
allele count: 14
allele frequency: 1.157120423175469e-4
allele num: 120990
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.783G>A
  hgvsp: ENSP00000371517.3:p.Met261Ile
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.677G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.783G>A
  hgvsp: ENSP00000334424.6:p.Met261Ile
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.738G>A
  hgvsp: ENSP00000424351.1:p.Met246Ile
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*25G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*209G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*105G>A
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13399
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43354
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met261Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

5-33989565-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989565
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989565
    reference: chr 5
allele count: 452
allele frequency: 3.735969451010861e-3
allele num: 120986
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.737T>C
  hgvsp: ENSP00000424351.1:p.Met246Thr
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.782T>C
  hgvsp: ENSP00000334424.6:p.Met261Thr
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.676T>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*208T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*24T>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*104T>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.782T>C
  hgvsp: ENSP00000371517.3:p.Met261Thr
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10263
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 3.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 13378
  bin: 3.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 4.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30625
  bin: 2.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Met261Thr
num of homozygotes: 14
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

5-33989568-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989568
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989568
    reference: chr 5
allele count: 3
allele frequency: 2.480815030431331e-5
allele num: 120928
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*205G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.779G>A
  hgvsp: ENSP00000334424.6:p.Ser260Asn
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.734G>A
  hgvsp: ENSP00000424351.1:p.Ser245Asn
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.673G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*101G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.779G>A
  hgvsp: ENSP00000371517.3:p.Ser260Asn
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*21G>A
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43627
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ser260Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

5-33989570-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989570
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989570
    reference: chr 5
allele count: 2
allele frequency: 1.654506047219603e-5
allele num: 120882
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.732G>A
  hgvsp: ENSP00000424351.1:p.Met244Ile
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.777G>A
  hgvsp: ENSP00000371517.3:p.Met259Ile
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.671G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.777G>A
  hgvsp: ENSP00000334424.6:p.Met259Ile
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*19G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*99G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*203G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Met259Ile
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

5-33989577-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989577
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989577
    reference: chr 5
allele count: 1
allele frequency: 8.281985026171072e-6
allele num: 120744
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*92A>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.770A>G
  hgvsp: ENSP00000334424.6:p.Asn257Ser
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.664A>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.770A>G
  hgvsp: ENSP00000371517.3:p.Asn257Ser
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*196A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.725A>G
  hgvsp: ENSP00000424351.1:p.Asn242Ser
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.*12A>G
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8315
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn257Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

5-33989590-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989590
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989590
    reference: chr 5
allele count: 1
allele frequency: 8.318083513558476e-6
allele num: 120220
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.757G>A
  hgvsp: ENSP00000371517.3:p.Asp253Asn
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.757G>A
  hgvsp: ENSP00000334424.6:p.Asp253Asn
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*79G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.596G>A
  hgvsp: ENST00000382072.2:c.596G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.651G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.712G>A
  hgvsp: ENSP00000424351.1:p.Asp238Asn
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*183G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2275
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp253Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

5-33989594-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989594
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989594
    reference: chr 5
allele count: 1
allele frequency: 8.335973058135075e-6
allele num: 119962
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.647G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.753G>A
  hgvsp: ENST00000382085.3:c.753G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*179G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*75G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.753G>A
  hgvsp: ENST00000335606.6:c.753G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.592G>A
  hgvsp: ENSP00000371504.2:p.Val198Ile
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.708G>A
  hgvsp: ENST00000502637.1:c.708G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/451
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val198Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-33989606-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989606
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989606
    reference: chr 5
allele count: 1
allele frequency: 8.464676903282601e-6
allele num: 118138
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.741A>C
  hgvsp: ENST00000335606.6:c.741A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.580A>C
  hgvsp: ENSP00000371504.2:p.Thr194Pro
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.635A>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*167A>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.696A>C
  hgvsp: ENST00000502637.1:c.696A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.741A>C
  hgvsp: ENST00000382085.3:c.741A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*63A>C
  variant of: http://identifiers.org/hgnc/451
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3307
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7723
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr194Pro
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

5-33989607-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989607
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989607
    reference: chr 5
allele count: 2
allele frequency: 1.695633743111488e-5
allele num: 117950
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.579G>A
  hgvsp: ENST00000382072.2:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.695G>A
  hgvsp: ENSP00000424351.1:p.Gly232Glu
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.740G>A
  hgvsp: ENSP00000371517.3:p.Gly247Glu
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*62G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*166G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.740G>A
  hgvsp: ENSP00000334424.6:p.Gly247Glu
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.634G>A
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3518
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7697
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly247Glu
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

5-33989608-CTGAGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989608
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989603
    reference: chr 5
allele count: 1
allele frequency: 8.491270973439305e-6
allele num: 117768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.579-6_579-2delCCTCA
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*62-6_*62-2delCCTCA
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.695-6_695-2delCCTCA
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.740-6_740-2delCCTCA
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.740-6_740-2delCCTCA
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.634-6_634-2delCCTCA
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*166-6_*166-2delCCTCA
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12241
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40008
  bin: 6.25e1
  variant carriers: 0
hgvs: c.740-6_740-2delCCTCA
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: CTGAGG
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-33989611-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989611
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989610
    reference: chr 5
allele count: 2
allele frequency: 1.708408788054806e-5
allele num: 117068
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*62-5delC
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.695-5delC
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.579-5delC
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.740-5delC
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.634-5delC
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*166-5delC
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.740-5delC
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4634
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
hgvs: c.740-5delC
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: AG
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

5-33989612-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989612
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989612
    reference: chr 5
allele count: 1
allele frequency: 8.563990134283366e-6
allele num: 116768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.579-5C>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.740-5C>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.740-5C>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*166-5C>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*62-5C>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.634-5C>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.695-5C>G
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4955
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
hgvs: c.740-5C>G
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

5-33989615-A-AGTCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989615
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989619
    reference: chr 5
allele count: 1
allele frequency: 8.622027556000069e-6
allele num: 115982
alternate allele: AGTCC
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*166-9_*166-8insGGAC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.695-9_695-8insGGAC
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*62-9_*62-8insGGAC
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.740-9_740-8insGGAC
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.740-9_740-8insGGAC
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.634-9_634-8insGGAC
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.579-9_579-8insGGAC
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9203
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5983
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

5-33989618-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989618
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989618
    reference: chr 5
allele count: 1
allele frequency: 8.700040020184093e-6
allele num: 114942
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.740-11T>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.579-11T>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*62-11T>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.740-11T>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*166-11T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.634-11T>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.695-11T>C
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8763
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34862
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-33989619-T-TCCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989619
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989622
    reference: chr 5
allele count: 1
allele frequency: 8.779168788299123e-6
allele num: 113906
alternate allele: TCCA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.740-13_740-12insTGG
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.740-13_740-12insTGG
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.579-13_579-12insTGG
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.695-13_695-12insTGG
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*62-13_*62-12insTGG
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.634-13_634-12insTGG
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*166-13_*166-12insTGG
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8378
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8707
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

5-33989623-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989623
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989623
    reference: chr 5
allele count: 1
allele frequency: 8.883519295003909e-6
allele num: 112568
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.579-16T>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.740-16T>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.634-16T>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*166-16T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*62-16T>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.695-16T>C
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.740-16T>C
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2481
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-33989624-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989624
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989624
    reference: chr 5
allele count: 3
allele frequency: 2.665860984235875e-5
allele num: 112534
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.634-17A>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*62-17A>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.740-17A>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.695-17A>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.579-17A>T
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*166-17A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.740-17A>T
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8210
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8098
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29818
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

5-33989626-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989626
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989626
    reference: chr 5
allele count: 1
allele frequency: 8.931123178050872e-6
allele num: 111968
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.579-19A>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.740-19A>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*62-19A>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.695-19A>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.634-19A>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*166-19A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.740-19A>G
  variant of: http://identifiers.org/hgnc/451
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13036
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7568
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11655
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4737
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

5-33989637-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33989637
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33989637
    reference: chr 5
allele count: 3
allele frequency: 2.738825591586328e-5
allele num: 109536
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.695-30A>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.740-30A>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.740-30A>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.634-30A>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*62-30A>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.579-30A>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*166-30A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8069
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12669
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14410
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3953
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

5-33994075-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33994075
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33994075
    reference: chr 5
allele count: 3
allele frequency: 3.184713375796178e-4
allele num: 9420
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*39C>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.695-4468C>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.740-4468C>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.740-4468C>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*166-4468C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.633+108C>G
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.579-4468C>G
  variant of: http://identifiers.org/hgnc/451
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

5-33994101-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33994101
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33994101
    reference: chr 5
allele count: 21
allele frequency: 2.119499394428744e-3
allele num: 9908
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.633+82G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.740-4494G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*166-4494G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.695-4494G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.*13G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.740-4494G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.579-4494G>A
  variant of: http://identifiers.org/hgnc/451
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3221
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

5-33994115-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33994115
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33994114
    reference: chr 5
allele count: 1
allele frequency: 9.66183574879227e-5
allele num: 10350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.740-4509delT
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.740-4509delT
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.695-4509delT
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.688delT
  hgvsp: ENSP00000427227.1:p.Ter230Asn
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.579-4509delT
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*166-4509delT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.633+67delT
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: frameshift_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000403800
  ensembl transcript: ENST00000441713
  gene symbol: AMACR
  hgvsc: ENST00000441713.2:c.688delT
  hgvsp: ENSP00000403800.2:p.Ter230delextTer?
  variant of: http://identifiers.org/hgnc/451
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3819
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ter230Asn
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: TA
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-33994116-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33994116
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33994116
    reference: chr 5
allele count: 2633
allele frequency: 2.507619047619047e-1
allele num: 10500
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*166-4509T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.633+67T>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000403800
  ensembl transcript: ENST00000441713
  gene symbol: AMACR
  hgvsc: ENST00000441713.2:c.688T>A
  hgvsp: ENSP00000403800.2:p.Ter230LysextTer?
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.579-4509T>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.740-4509T>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.695-4509T>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.688T>A
  hgvsp: ENSP00000427227.1:p.Ter230LysextTer11
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.740-4509T>A
  variant of: http://identifiers.org/hgnc/451
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 2.25e1
  variant carriers: 162
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 2.5e0
  variant carriers: 229
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.25e1
  variant carriers: 326
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 3.75e1
  variant carriers: 431
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 2.75e1
  variant carriers: 294
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.75e1
  variant carriers: 214
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 3.25e1
  variant carriers: 397
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.25e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 2560
  bin: 6.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 2
hgvs: p.Ter230LysextTer11
num of homozygotes: 498
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

5-33994142-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33994142
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33994142
    reference: chr 5
allele count: 3
allele frequency: 2.813203300825206e-4
allele num: 10664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.740-4535G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.662G>A
  hgvsp: ENSP00000427227.1:p.Arg221His
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.740-4535G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.633+41G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000403800
  ensembl transcript: ENST00000441713
  gene symbol: AMACR
  hgvsc: ENST00000441713.2:c.662G>A
  hgvsp: ENSP00000403800.2:p.Arg221His
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.695-4535G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.579-4535G>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*166-4535G>A
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg221His
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: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum

5-33994143-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33994143
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 33994143
    reference: chr 5
allele count: 1
allele frequency: 9.373828271466067e-5
allele num: 10668
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273294
  ensembl protein: ENSP00000371511
  ensembl transcript: ENST00000382079
  gene symbol: RP11-1084J3.4
  hgvsc: ENST00000382079.3:c.*166-4536C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371517
  ensembl transcript: ENST00000382085
  gene symbol: AMACR
  hgvsc: ENST00000382085.3:c.740-4536C>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000427227
  ensembl transcript: ENST00000506639
  gene symbol: AMACR
  hgvsc: ENST00000506639.1:c.661C>A
  hgvsp: ENSP00000427227.1:p.Arg221Ser
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000403800
  ensembl transcript: ENST00000441713
  gene symbol: AMACR
  hgvsc: ENST00000441713.2:c.661C>A
  hgvsp: ENSP00000403800.2:p.Arg221Ser
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000424351
  ensembl transcript: ENST00000502637
  gene symbol: AMACR
  hgvsc: ENST00000502637.1:c.695-4536C>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000334424
  ensembl transcript: ENST00000335606
  gene symbol: AMACR
  hgvsc: ENST00000335606.6:c.740-4536C>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl transcript: ENST00000514195
  gene symbol: AMACR
  hgvsc: ENST00000514195.1:n.633+40C>A
  variant of: http://identifiers.org/hgnc/451
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000242110
  ensembl protein: ENSP00000371504
  ensembl transcript: ENST00000382072
  gene symbol: AMACR
  hgvsc: ENST00000382072.2:c.579-4536C>A
  variant of: http://identifiers.org/hgnc/451
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg221Ser
num of homozygotes: 0
reference allele: G

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

GenotypeQuality
all individuals: 3912
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23883
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2365
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7544
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4944
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12527
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.96e-1

DP
type: SiteQuality
SIO_000300: 1.904208e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

FS
type: SiteQuality
SIO_000300: 4.058e0

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e-1

QD
type: SiteQuality
SIO_000300: 1.414e1

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2365
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 7544
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

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

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

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.99e-1

FS
type: SiteQuality
SIO_000300: 6.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.31e-1

BaseQRankSum
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SIO_000300: -3.802e0

DP
type: SiteQuality
SIO_000300: 1.904255e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-2

MQ
type: SiteQuality
SIO_000300: 5.984e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.43e-1

QD
type: SiteQuality
SIO_000300: 9.77e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495459585818323e-5
allele num: 66734
num of homozygotes: 0

African
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allele count: 3
allele frequency: 2.882952142994427e-4
allele num: 10406
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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.3e-2

FS
type: SiteQuality
SIO_000300: 5.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.27e-1

BaseQRankSum
type: SiteQuality
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QD
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SIO_000300: 7.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

DP
type: SiteQuality
SIO_000300: 1.904794e6

MQ
type: SiteQuality
SIO_000300: 5.984e1

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
all individuals: 12535
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GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.66e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

QD
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BaseQRankSum
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SIO_000300: 4.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.3e-2

DP
type: SiteQuality
SIO_000300: 1.904794e6

FS
type: SiteQuality
SIO_000300: 5.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.27e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3912
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

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

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

Latino
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allele count: 2
allele frequency: 1.727712508638562e-4
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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.96e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.35e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 4.264e0

DP
type: SiteQuality
SIO_000300: 1.904546e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.96e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.92e-1

QD
type: SiteQuality
SIO_000300: 1.35e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

DP
type: SiteQuality
SIO_000300: 1.904546e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.264e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.96e-1

GenotypeQuality
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bin: 1.75e1
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 4
allele frequency: 4.622140050843541e-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

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

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

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

FS
type: SiteQuality
SIO_000300: 4.083e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

DP
type: SiteQuality
SIO_000300: 1.905084e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.422e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.355e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
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

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

InbreedingCoeff
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VQSLOD
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
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SIO_000300: -3.641e0

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.67e-1

DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

South Asian
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allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

Other
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allele num: 908
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
allele num: 8654
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
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: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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Other
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MQRankSum
type: SiteQuality
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MQ
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VQSLOD
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QD
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FS
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.2e-2

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

South Asian
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allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
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
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

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

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

QD
type: SiteQuality
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MQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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FS
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DP
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ClippingRankSum
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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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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

Other
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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European (Finnish)
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allele frequency: 0.0e0
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FS
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SIO_000300: 7.438e0

InbreedingCoeff
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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QD
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MQRankSum
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MQ
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BaseQRankSum
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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variant carriers: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele num: 10406
num of homozygotes: 0

MQRankSum
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InbreedingCoeff
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MQ
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SIO_000300: 5.975e1

ClippingRankSum
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DP
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VQSLOD
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FS
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BaseQRankSum
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SIO_000300: -1.502e0

ReadPosRankSum
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SIO_000300: 1.74e-1

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

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

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

Latino
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allele frequency: 0.0e0
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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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num of homozygotes: 0

South Asian
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FS
type: SiteQuality
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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SIO_000300: 1.906572e6

MQRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: -8.94e-1

QD
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SIO_000300: 1.494e1

MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
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num of homozygotes: 0

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

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

South Asian
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ClippingRankSum
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QD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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FS
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DP
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BaseQRankSum
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MQRankSum
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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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African
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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
allele num: 908
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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allele num: 66738
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

South Asian
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allele frequency: 6.664243305464679e-4
allele num: 16506
num of homozygotes: 0

East Asian
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allele frequency: 7.510977582620753e-3
allele num: 8654
num of homozygotes: 0

Other
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allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

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

Other
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num of homozygotes: 0

East Asian
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Latino
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allele num: 11576
num of homozygotes: 0

African
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European (Non-Finnish)
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European (Finnish)
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South Asian
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MQ
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BaseQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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DP
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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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bin: 8.25e1
variant carriers: 0

Other
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num of homozygotes: 0

Latino
type: Population
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num of homozygotes: 0

African
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East Asian
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European (Non-Finnish)
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allele num: 66740
num of homozygotes: 0

South Asian
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European (Finnish)
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QD
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BaseQRankSum
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ReadPosRankSum
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MQ
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MQRankSum
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VQSLOD
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DP
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FS
type: SiteQuality
SIO_000300: 4.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.14e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

GenotypeQuality
all individuals: 1796
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2361
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23646
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3637
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3908
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.06e-2

FS
type: SiteQuality
SIO_000300: 7.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

QD
type: SiteQuality
SIO_000300: 1.739e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.909706e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

MQ
type: SiteQuality
SIO_000300: 5.664e1

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

GenotypeQuality
all individuals: 23612
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7512
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1788
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2355
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3898
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4926
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12755
bin: 9.75e1
variant carriers: 159

African
type: Population
allele count: 110
allele frequency: 1.05708245243129e-2
allele num: 10406
num of homozygotes: 3

South Asian
type: Population
allele count: 6
allele frequency: 3.635482307319437e-4
allele num: 16504
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 3.745879532514234e-4
allele num: 66740
num of homozygotes: 0

Latino
type: Population
allele count: 19
allele frequency: 1.641326883206634e-3
allele num: 11576
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.75e-1

FS
type: SiteQuality
SIO_000300: 1.127e0

VQSLOD
type: SiteQuality
SIO_000300: 4.29e0

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.54e-2

QD
type: SiteQuality
SIO_000300: 1.419e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.52e-1

DP
type: SiteQuality
SIO_000300: 1.917402e6

GenotypeQuality
all individuals: 7515
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23624
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3622
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2357
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12711
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3902
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1790
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.484e1

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.64e-2

DP
type: SiteQuality
SIO_000300: 1.914625e6

FS
type: SiteQuality
SIO_000300: 9.834e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.986e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.085e-1

GenotypeQuality
all individuals: 4690
bin: 6.25e1
variant carriers: 49

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 33

GenotypeQuality
all individuals: 233
bin: 7.25e1
variant carriers: 45

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 16

GenotypeQuality
all individuals: 166
bin: 8.75e1
variant carriers: 108

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 6

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 5

GenotypeQuality
all individuals: 270
bin: 8.25e1
variant carriers: 134

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 11

GenotypeQuality
all individuals: 53719
bin: 9.75e1
variant carriers: 53479

GenotypeQuality
all individuals: 266
bin: 9.25e1
variant carriers: 188

GenotypeQuality
all individuals: 328
bin: 7.75e1
variant carriers: 113

African
type: Population
allele count: 8141
allele frequency: 7.824875048058439e-1
allele num: 10404
num of homozygotes: 3205

Other
type: Population
allele count: 607
allele frequency: 6.699779249448123e-1
allele num: 906
num of homozygotes: 201

South Asian
type: Population
allele count: 6957
allele frequency: 4.216363636363636e-1
allele num: 16500
num of homozygotes: 1533

East Asian
type: Population
allele count: 7403
allele frequency: 8.556403143781784e-1
allele num: 8652
num of homozygotes: 3180

Latino
type: Population
allele count: 7469
allele frequency: 6.459955025082166e-1
allele num: 11562
num of homozygotes: 2446

European (Finnish)
type: Population
allele count: 4998
allele frequency: 7.561270801815431e-1
allele num: 6610
num of homozygotes: 1888

European (Non-Finnish)
type: Population
allele count: 49566
allele frequency: 7.429179531760545e-1
allele num: 66718
num of homozygotes: 18374

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

DP
type: SiteQuality
SIO_000300: 4.021475e6

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.519999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.798e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

FS
type: SiteQuality
SIO_000300: 5.32e-1

QD
type: SiteQuality
SIO_000300: 2.617e1

MQRankSum
type: SiteQuality
SIO_000300: 7.3e-2

GenotypeQuality
all individuals: 1173
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2686
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1969
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 1830
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43096
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.481e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.772e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.68e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.62e-1

DP
type: SiteQuality
SIO_000300: 1.776902e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.83e0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: 1.95e-1

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1961
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variant carriers: 0

GenotypeQuality
all individuals: 43121
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1825
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2684
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8549
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
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: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

DP
type: SiteQuality
SIO_000300: 1.776581e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.52e0

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-2

QD
type: SiteQuality
SIO_000300: 1.536e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.618e0

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

GenotypeQuality
all individuals: 1949
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1157
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2680
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 430
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
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: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
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: 10392
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -9.660000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.69e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.715e0

QD
type: SiteQuality
SIO_000300: 1.223e1

MQRankSum
type: SiteQuality
SIO_000300: 7.65e-1

DP
type: SiteQuality
SIO_000300: 1.77534e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.171e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 4.709e0

MQ
type: SiteQuality
SIO_000300: 5.898e1

GenotypeQuality
all individuals: 1794
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43167
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1145
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1929
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.44e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

MQ
type: SiteQuality
SIO_000300: 5.901e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e0

DP
type: SiteQuality
SIO_000300: 1.773659e6

MQRankSum
type: SiteQuality
SIO_000300: -4.57e-1

QD
type: SiteQuality
SIO_000300: 3.309e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.95e0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 7.5e0
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GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43087
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variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1916
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.650646593321752e-5
allele num: 10362
num of homozygotes: 0

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.077e0

MQRankSum
type: SiteQuality
SIO_000300: 4.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-2

DP
type: SiteQuality
SIO_000300: 1.771818e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 8.050000000000001e0

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1139
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1789
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 8438
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variant carriers: 0

GenotypeQuality
all individuals: 43180
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1918
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 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: 6610
num of homozygotes: 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: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.730103806228374e-4
allele num: 11560
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.78e-1

FS
type: SiteQuality
SIO_000300: 6.043e0

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.305e1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

DP
type: SiteQuality
SIO_000300: 1.771327e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
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

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

QD
type: SiteQuality
SIO_000300: 1.305e1

FS
type: SiteQuality
SIO_000300: 6.043e0

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

DP
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SIO_000300: 1.771327e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.78e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
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: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
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: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.305e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

FS
type: SiteQuality
SIO_000300: 6.043e0

DP
type: SiteQuality
SIO_000300: 1.771327e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.67e-1

GenotypeQuality
all individuals: 8419
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.187e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.43e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.526e0

MQ
type: SiteQuality
SIO_000300: 5.908e1

FS
type: SiteQuality
SIO_000300: 1.379e0

VQSLOD
type: SiteQuality
SIO_000300: -2.362e-1

DP
type: SiteQuality
SIO_000300: 1.770313e6

QD
type: SiteQuality
SIO_000300: 1.435e1

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2628
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 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: 8650
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

QD
type: SiteQuality
SIO_000300: 1.094e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.767373e6

MQ
type: SiteQuality
SIO_000300: 5.944e1

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2623
bin: 9.75e1
variant carriers: 1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

FS
type: SiteQuality
SIO_000300: 3.796e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e0

QD
type: SiteQuality
SIO_000300: 1.204e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.46e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

DP
type: SiteQuality
SIO_000300: 1.765322e6

VQSLOD
type: SiteQuality
SIO_000300: -5.36e-1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1118
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66516
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 2.908667830133799e-4
allele num: 10314
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: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.946e0

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.22e1

DP
type: SiteQuality
SIO_000300: 1.765231e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.27e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66516
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.837e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

DP
type: SiteQuality
SIO_000300: 1.765022e6

MQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.051e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 20
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 14

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1119
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.510193036261952e-5
allele num: 66516
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
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: 8
allele frequency: 7.757951900698216e-4
allele num: 10312
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.598302442404296e-4
allele num: 11546
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.765022e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.051e1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.81e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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
all individuals: 2727
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variant carriers: 437

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.510464277122925e-5
allele num: 66512
num of homozygotes: 0

African
type: Population
allele count: 427
allele frequency: 4.141610087293889e-2
allele num: 10310
num of homozygotes: 14

Latino
type: Population
allele count: 20
allele frequency: 1.732501732501732e-3
allele num: 11544
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.074596039363382e-5
allele num: 16462
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.765697e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.61e-2

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.39e0

QD
type: SiteQuality
SIO_000300: 1.272e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

GenotypeQuality
all individuals: 1729
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 405
bin: 8.75e1
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GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 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: 6608
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.512363877023043e-5
allele num: 66484
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.061e0

MQ
type: SiteQuality
SIO_000300: 5.86e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

FS
type: SiteQuality
SIO_000300: 6.18e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.201e0

DP
type: SiteQuality
SIO_000300: 1.749782e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.66e-1

QD
type: SiteQuality
SIO_000300: 1.07e1

GenotypeQuality
all individuals: 444
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 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: 2
allele frequency: 3.009147809340395e-5
allele num: 66464
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.289999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 1.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.929e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.467e0

FS
type: SiteQuality
SIO_000300: 4.478e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

DP
type: SiteQuality
SIO_000300: 1.748962e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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: 1.506296318611797e-5
allele num: 66388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.665e0

DP
type: SiteQuality
SIO_000300: 1.745799e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

FS
type: SiteQuality
SIO_000300: 3.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.093e0

MQ
type: SiteQuality
SIO_000300: 5.812e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

VQSLOD
type: SiteQuality
SIO_000300: -2.311e0

QD
type: SiteQuality
SIO_000300: 1.456e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.19e-1

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 124
bin: 2.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.093102607847916e-5
allele num: 16412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66070
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.734677e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.9e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.474e0

GenotypeQuality
all individuals: 14
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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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GenotypeQuality
all individuals: 1757
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16386
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.926543577526305e-5
allele num: 10074
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65936
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.005e0

DP
type: SiteQuality
SIO_000300: 1.728838e6

VQSLOD
type: SiteQuality
SIO_000300: -6.793e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.932e1

QD
type: SiteQuality
SIO_000300: 1.228e1

MQRankSum
type: SiteQuality
SIO_000300: -1.386e0

FS
type: SiteQuality
SIO_000300: 6.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.73e-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
all individuals: 1019
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64808
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.170138076293003e-4
allele num: 8546
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

QD
type: SiteQuality
SIO_000300: 1.201e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 3.264e0

DP
type: SiteQuality
SIO_000300: 1.68232e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-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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variant carriers: 0

South Asian
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allele count: 2
allele frequency: 1.23395853899309e-4
allele num: 16208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64674
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VQSLOD
type: SiteQuality
SIO_000300: -1.395e-1

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.483e0

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.548610896026264e-5
allele num: 64574
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11322
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16184
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.966e0

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.267e0

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
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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South Asian
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

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

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

African
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allele count: 2
allele frequency: 2.075119319360863e-4
allele num: 9638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64126
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.768e-1

MQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 1.4065e1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.34e-1

DP
type: SiteQuality
SIO_000300: 1.645422e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.563623854645526e-5
allele num: 63954
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 9582
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16102
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.87e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
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QD
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FS
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MQ
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.26e-1

BaseQRankSum
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SIO_000300: -1.432e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-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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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.574406448768814e-5
allele num: 63516
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11178
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9498
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16008
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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FS
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SIO_000300: 6.799e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

MQ
type: SiteQuality
SIO_000300: 4.937e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

DP
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SIO_000300: 1.607921e6

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.811e0

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11092
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15924
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.590330788804071e-5
allele num: 62880
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9404
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8310
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.775e0

BaseQRankSum
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SIO_000300: 2.04e0

FS
type: SiteQuality
SIO_000300: 1.0476e1

DP
type: SiteQuality
SIO_000300: 1.568232e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.37e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 4.725e1

VQSLOD
type: SiteQuality
SIO_000300: -3.298e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-2

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10986
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9272
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.606012912343815e-5
allele num: 62266
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8234
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.96e-1

MQ
type: SiteQuality
SIO_000300: 4.762e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.606e0

DP
type: SiteQuality
SIO_000300: 1.5256e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

VQSLOD
type: SiteQuality
SIO_000300: 1.77e-1

FS
type: SiteQuality
SIO_000300: 1.0482e1

QD
type: SiteQuality
SIO_000300: 1.404e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9086
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8118
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10894
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.355662895640016e-5
allele num: 15734
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.448599e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.6e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.911e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.404e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.893e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.263e0

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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bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.881064722918226e-5
allele num: 61462
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8116
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15730
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

FS
type: SiteQuality
SIO_000300: 3.987e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.491e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.168e1

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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bin: 6.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8074
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10846
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6386
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.636500507315157e-5
allele num: 61106
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 850
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.77e0

FS
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SIO_000300: 0.0e0

QD
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.61e-1

MQRankSum
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.411531e6

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 15446
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6336
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 10656
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59638
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7902
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African
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allele frequency: 3.437213565536205e-4
allele num: 8728
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.489e1

FS
type: SiteQuality
SIO_000300: 7.964e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.43e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.236104e6

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 3
allele frequency: 4.588559192413582e-4
allele num: 6538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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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: 114
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European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2384
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

VQSLOD
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.75e-2

QD
type: SiteQuality
SIO_000300: 1.521e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-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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variant carriers: 21

GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 21
allele frequency: 3.054989816700611e-3
allele num: 6874
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2510
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 1.15203e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.093e0

MQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.28e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

QD
type: SiteQuality
SIO_000300: 1.232e1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.32e-1

GenotypeQuality
all individuals: 495
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1164
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 34
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.38811771238201e-4
allele num: 7204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.055e0

QD
type: SiteQuality
SIO_000300: 7.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.695e0

DP
type: SiteQuality
SIO_000300: 1.25264e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.52e-2

FS
type: SiteQuality
SIO_000300: 1.022e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.649999999999999e-1

GenotypeQuality
all individuals: 582
bin: 7.5e0
variant carriers: 146

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 5

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 5

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 51

GenotypeQuality
all individuals: 237
bin: 6.75e1
variant carriers: 19

GenotypeQuality
all individuals: 77
bin: 7.25e1
variant carriers: 11

GenotypeQuality
all individuals: 201
bin: 2.5e0
variant carriers: 4

GenotypeQuality
all individuals: 84
bin: 7.75e1
variant carriers: 20

GenotypeQuality
all individuals: 44
bin: 9.25e1
variant carriers: 38

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 10

GenotypeQuality
all individuals: 1976
bin: 9.75e1
variant carriers: 1974

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 6

GenotypeQuality
all individuals: 58
bin: 8.25e1
variant carriers: 27

Latino
type: Population
allele count: 22
allele frequency: 2.391304347826087e-1
allele num: 92
num of homozygotes: 3

African
type: Population
allele count: 82
allele frequency: 4.408602150537634e-1
allele num: 186
num of homozygotes: 18

South Asian
type: Population
allele count: 1010
allele frequency: 1.387362637362637e-1
allele num: 7280
num of homozygotes: 80

European (Non-Finnish)
type: Population
allele count: 1442
allele frequency: 5.356612184249628e-1
allele num: 2692
num of homozygotes: 384

East Asian
type: Population
allele count: 38
allele frequency: 2.878787878787879e-1
allele num: 132
num of homozygotes: 8

Other
type: Population
allele count: 39
allele frequency: 3.305084745762712e-1
allele num: 118
num of homozygotes: 5

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

MQ
type: SiteQuality
SIO_000300: 5.991e1

DP
type: SiteQuality
SIO_000300: 1.52884e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.239e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

QD
type: SiteQuality
SIO_000300: 1.861e1

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.470000000000001e0

GenotypeQuality
all individuals: 1161
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4232
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 99
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 80
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2690
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 4.030091348737238e-4
allele num: 7444
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-2

QD
type: SiteQuality
SIO_000300: 7.23e0

VQSLOD
type: SiteQuality
SIO_000300: -5.585e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-1

FS
type: SiteQuality
SIO_000300: 4.158e0

MQ
type: SiteQuality
SIO_000300: 5.916e1

DP
type: SiteQuality
SIO_000300: 1.36612e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.199e0