12-69233367-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233367
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233367
    reference: chr 12
allele count: 21
allele frequency: 1.73910162978667e-4
allele num: 120752
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445222
  ensembl transcript: ENST00000546048
  gene symbol: MDM2
  hgvsc: ENST00000546048.1:c.*52-188A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429021
  ensembl transcript: ENST00000393417
  gene symbol: MDM2
  hgvsc: ENST00000393417.3:c.*1088A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.1049A>G
  hgvsp: ENSP00000258149.5:p.Tyr350Cys
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.395A>G
  hgvsp: ENSP00000377064.3:p.Tyr132Cys
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258148
  ensembl transcript: ENST00000258148
  gene symbol: MDM2
  hgvsc: ENST00000258148.7:c.1067A>G
  hgvsp: ENSP00000258148.7:p.Tyr356Cys
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430906
  ensembl transcript: ENST00000478070
  gene symbol: MDM2
  hgvsc: ENST00000478070.1:c.*280A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377065
  ensembl transcript: ENST00000393413
  gene symbol: MDM2
  hgvsc: ENST00000393413.3:c.395A>G
  hgvsp: ENSP00000377065.3:p.Tyr132Cys
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000299252
  ensembl transcript: ENST00000299252
  gene symbol: MDM2
  hgvsc: ENST00000299252.4:c.704A>G
  hgvsp: ENSP00000299252.4:p.Tyr235Cys
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000335096
  ensembl transcript: ENST00000348801
  gene symbol: MDM2
  hgvsc: ENST00000348801.2:c.536A>G
  hgvsp: ENSP00000335096.3:p.Tyr179Cys
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444028
  ensembl transcript: ENST00000536089
  gene symbol: MDM2
  hgvsc: ENST00000536089.1:c.*682A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.704A>G
  hgvsp: ENSP00000348637.4:p.Tyr235Cys
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000353611
  ensembl transcript: ENST00000360430
  gene symbol: MDM2
  hgvsc: ENST00000360430.2:c.629A>G
  hgvsp: ENSP00000353611.2:p.Tyr210Cys
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430257
  ensembl transcript: ENST00000517852
  gene symbol: MDM2
  hgvsc: ENST00000517852.1:c.157-26A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000431110
  ensembl transcript: ENST00000481186
  gene symbol: MDM2
  hgvsc: ENST00000481186.1:c.*686A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.551A>G
  hgvsp: ENSP00000410694.2:p.Tyr184Cys
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444566
  ensembl transcript: ENST00000542502
  gene symbol: MDM2
  hgvsc: ENST00000542502.1:c.*610A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.629A>G
  hgvsp: ENSP00000440932.1:p.Tyr210Cys
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.1232A>G
  hgvsp: ENSP00000417281.1:p.Tyr411Cys
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000443450
  ensembl transcript: ENST00000537182
  gene symbol: MDM2
  hgvsc: ENST00000537182.1:c.*512A>G
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Tyr411Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

12-69233370-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233370
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233370
    reference: chr 12
allele count: 1
allele frequency: 8.281573498964803e-6
allele num: 120750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.398G>T
  hgvsp: ENSP00000377064.3:p.Ser133Ile
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445222
  ensembl transcript: ENST00000546048
  gene symbol: MDM2
  hgvsc: ENST00000546048.1:c.*52-185G>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000443450
  ensembl transcript: ENST00000537182
  gene symbol: MDM2
  hgvsc: ENST00000537182.1:c.*515G>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258148
  ensembl transcript: ENST00000258148
  gene symbol: MDM2
  hgvsc: ENST00000258148.7:c.1070G>T
  hgvsp: ENSP00000258148.7:p.Ser357Ile
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444566
  ensembl transcript: ENST00000542502
  gene symbol: MDM2
  hgvsc: ENST00000542502.1:c.*613G>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377062
  ensembl transcript: ENST00000393410
  gene symbol: MDM2
  hgvsc: ENST00000393410.1:c.473G>T
  hgvsp: ENSP00000377062.1:p.Ser158Ile
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000266624
  ensembl transcript: ENST00000350057
  gene symbol: MDM2
  hgvsc: ENST00000350057.5:c.1142G>T
  hgvsp: ENSP00000266624.9:p.Ser381Ile
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.1052G>T
  hgvsp: ENSP00000258149.5:p.Ser351Ile
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000310742
  ensembl transcript: ENST00000311420
  gene symbol: MDM2
  hgvsc: ENST00000311420.9:c.*846G>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000335096
  ensembl transcript: ENST00000348801
  gene symbol: MDM2
  hgvsc: ENST00000348801.2:c.539G>T
  hgvsp: ENSP00000335096.3:p.Ser180Ile
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000353611
  ensembl transcript: ENST00000360430
  gene symbol: MDM2
  hgvsc: ENST00000360430.2:c.632G>T
  hgvsp: ENSP00000353611.2:p.Ser211Ile
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.554G>T
  hgvsp: ENSP00000410694.2:p.Ser185Ile
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429021
  ensembl transcript: ENST00000393417
  gene symbol: MDM2
  hgvsc: ENST00000393417.3:c.*1091G>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.1235G>T
  hgvsp: ENSP00000417281.1:p.Ser412Ile
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377065
  ensembl transcript: ENST00000393413
  gene symbol: MDM2
  hgvsc: ENST00000393413.3:c.398G>T
  hgvsp: ENSP00000377065.3:p.Ser133Ile
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000299252
  ensembl transcript: ENST00000299252
  gene symbol: MDM2
  hgvsc: ENST00000299252.4:c.707G>T
  hgvsp: ENSP00000299252.4:p.Ser236Ile
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.632G>T
  hgvsp: ENSP00000440932.1:p.Ser211Ile
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430257
  ensembl transcript: ENST00000517852
  gene symbol: MDM2
  hgvsc: ENST00000517852.1:c.157-23G>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429692
  ensembl transcript: ENST00000496959
  gene symbol: MDM2
  hgvsc: ENST00000496959.1:c.*455G>T
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser412Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

12-69233372-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233372
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233372
    reference: chr 12
allele count: 1
allele frequency: 8.281299170213822e-6
allele num: 120754
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.400A>G
  hgvsp: ENSP00000377064.3:p.Ser134Gly
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000266624
  ensembl transcript: ENST00000350057
  gene symbol: MDM2
  hgvsc: ENST00000350057.5:c.1144A>G
  hgvsp: ENSP00000266624.9:p.Ser382Gly
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.634A>G
  hgvsp: ENSP00000440932.1:p.Ser212Gly
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444597
  ensembl transcript: ENST00000545204
  gene symbol: MDM2
  hgvsc: ENST00000545204.1:c.141A>G
  hgvsp: ENST00000545204.1:c.141A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429021
  ensembl transcript: ENST00000393417
  gene symbol: MDM2
  hgvsc: ENST00000393417.3:c.*1093A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377062
  ensembl transcript: ENST00000393410
  gene symbol: MDM2
  hgvsc: ENST00000393410.1:c.475A>G
  hgvsp: ENSP00000377062.1:p.Ser159Gly
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377065
  ensembl transcript: ENST00000393413
  gene symbol: MDM2
  hgvsc: ENST00000393413.3:c.400A>G
  hgvsp: ENSP00000377065.3:p.Ser134Gly
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445030
  ensembl transcript: ENST00000540352
  gene symbol: MDM2
  hgvsc: ENST00000540352.1:c.*545A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000299252
  ensembl transcript: ENST00000299252
  gene symbol: MDM2
  hgvsc: ENST00000299252.4:c.709A>G
  hgvsp: ENSP00000299252.4:p.Ser237Gly
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000335096
  ensembl transcript: ENST00000348801
  gene symbol: MDM2
  hgvsc: ENST00000348801.2:c.541A>G
  hgvsp: ENSP00000335096.3:p.Ser181Gly
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000443450
  ensembl transcript: ENST00000537182
  gene symbol: MDM2
  hgvsc: ENST00000537182.1:c.*517A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258148
  ensembl transcript: ENST00000258148
  gene symbol: MDM2
  hgvsc: ENST00000258148.7:c.1072A>G
  hgvsp: ENSP00000258148.7:p.Ser358Gly
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.1054A>G
  hgvsp: ENSP00000258149.5:p.Ser352Gly
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430906
  ensembl transcript: ENST00000478070
  gene symbol: MDM2
  hgvsc: ENST00000478070.1:c.*285A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.709A>G
  hgvsp: ENSP00000348637.4:p.Ser237Gly
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.556A>G
  hgvsp: ENSP00000410694.2:p.Ser186Gly
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430257
  ensembl transcript: ENST00000517852
  gene symbol: MDM2
  hgvsc: ENST00000517852.1:c.157-21A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444028
  ensembl transcript: ENST00000536089
  gene symbol: MDM2
  hgvsc: ENST00000536089.1:c.*687A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444566
  ensembl transcript: ENST00000542502
  gene symbol: MDM2
  hgvsc: ENST00000542502.1:c.*615A>G
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser413Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-69233376-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233376
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233376
    reference: chr 12
allele count: 6
allele frequency: 4.968697207592169e-5
allele num: 120756
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.1058A>T
  hgvsp: ENSP00000258149.5:p.Gln353Leu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000431110
  ensembl transcript: ENST00000481186
  gene symbol: MDM2
  hgvsc: ENST00000481186.1:c.*695A>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.638A>T
  hgvsp: ENSP00000440932.1:p.Gln213Leu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445222
  ensembl transcript: ENST00000546048
  gene symbol: MDM2
  hgvsc: ENST00000546048.1:c.*52-179A>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000310742
  ensembl transcript: ENST00000311420
  gene symbol: MDM2
  hgvsc: ENST00000311420.9:c.*852A>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000443450
  ensembl transcript: ENST00000537182
  gene symbol: MDM2
  hgvsc: ENST00000537182.1:c.*521A>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377065
  ensembl transcript: ENST00000393413
  gene symbol: MDM2
  hgvsc: ENST00000393413.3:c.404A>T
  hgvsp: ENSP00000377065.3:p.Gln135Leu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430906
  ensembl transcript: ENST00000478070
  gene symbol: MDM2
  hgvsc: ENST00000478070.1:c.*289A>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444597
  ensembl transcript: ENST00000545204
  gene symbol: MDM2
  hgvsc: ENST00000545204.1:c.145A>T
  hgvsp: ENSP00000444597.1:p.Lys49Ter
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444566
  ensembl transcript: ENST00000542502
  gene symbol: MDM2
  hgvsc: ENST00000542502.1:c.*619A>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.713A>T
  hgvsp: ENSP00000348637.4:p.Gln238Leu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.404A>T
  hgvsp: ENSP00000377064.3:p.Gln135Leu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258148
  ensembl transcript: ENST00000258148
  gene symbol: MDM2
  hgvsc: ENST00000258148.7:c.1076A>T
  hgvsp: ENSP00000258148.7:p.Gln359Leu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000266624
  ensembl transcript: ENST00000350057
  gene symbol: MDM2
  hgvsc: ENST00000350057.5:c.1148A>T
  hgvsp: ENSP00000266624.9:p.Gln383Leu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.1241A>T
  hgvsp: ENSP00000417281.1:p.Gln414Leu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430257
  ensembl transcript: ENST00000517852
  gene symbol: MDM2
  hgvsc: ENST00000517852.1:c.157-17A>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000335096
  ensembl transcript: ENST00000348801
  gene symbol: MDM2
  hgvsc: ENST00000348801.2:c.545A>T
  hgvsp: ENSP00000335096.3:p.Gln182Leu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429692
  ensembl transcript: ENST00000496959
  gene symbol: MDM2
  hgvsc: ENST00000496959.1:c.*461A>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000299252
  ensembl transcript: ENST00000299252
  gene symbol: MDM2
  hgvsc: ENST00000299252.4:c.713A>T
  hgvsp: ENSP00000299252.4:p.Gln238Leu
  variant of: http://identifiers.org/hgnc/6973
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys49Ter
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/12-69233377-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233377
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233377
    reference: chr 12
allele count: 18
allele frequency: 1.490658539817146e-4
allele num: 120752
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000335096
  ensembl transcript: ENST00000348801
  gene symbol: MDM2
  hgvsc: ENST00000348801.2:c.546A>C
  hgvsp: ENSP00000335096.3:p.Gln182His
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258148
  ensembl transcript: ENST00000258148
  gene symbol: MDM2
  hgvsc: ENST00000258148.7:c.1077A>C
  hgvsp: ENSP00000258148.7:p.Gln359His
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.1242A>C
  hgvsp: ENSP00000417281.1:p.Gln414His
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000299252
  ensembl transcript: ENST00000299252
  gene symbol: MDM2
  hgvsc: ENST00000299252.4:c.714A>C
  hgvsp: ENSP00000299252.4:p.Gln238His
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444028
  ensembl transcript: ENST00000536089
  gene symbol: MDM2
  hgvsc: ENST00000536089.1:c.*692A>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.639A>C
  hgvsp: ENSP00000440932.1:p.Gln213His
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.714A>C
  hgvsp: ENSP00000348637.4:p.Gln238His
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.405A>C
  hgvsp: ENSP00000377064.3:p.Gln135His
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377062
  ensembl transcript: ENST00000393410
  gene symbol: MDM2
  hgvsc: ENST00000393410.1:c.480A>C
  hgvsp: ENSP00000377062.1:p.Gln160His
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430906
  ensembl transcript: ENST00000478070
  gene symbol: MDM2
  hgvsc: ENST00000478070.1:c.*290A>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000353611
  ensembl transcript: ENST00000360430
  gene symbol: MDM2
  hgvsc: ENST00000360430.2:c.639A>C
  hgvsp: ENSP00000353611.2:p.Gln213His
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000266624
  ensembl transcript: ENST00000350057
  gene symbol: MDM2
  hgvsc: ENST00000350057.5:c.1149A>C
  hgvsp: ENSP00000266624.9:p.Gln383His
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.1059A>C
  hgvsp: ENSP00000258149.5:p.Gln353His
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000310742
  ensembl transcript: ENST00000311420
  gene symbol: MDM2
  hgvsc: ENST00000311420.9:c.*853A>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377065
  ensembl transcript: ENST00000393413
  gene symbol: MDM2
  hgvsc: ENST00000393413.3:c.405A>C
  hgvsp: ENSP00000377065.3:p.Gln135His
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000441841
  ensembl transcript: ENST00000544561
  gene symbol: MDM2
  hgvsc: ENST00000544561.1:c.184-165A>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444566
  ensembl transcript: ENST00000542502
  gene symbol: MDM2
  hgvsc: ENST00000542502.1:c.*620A>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430257
  ensembl transcript: ENST00000517852
  gene symbol: MDM2
  hgvsc: ENST00000517852.1:c.157-16A>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429692
  ensembl transcript: ENST00000496959
  gene symbol: MDM2
  hgvsc: ENST00000496959.1:c.*462A>C
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln414His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

12-69233377-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233377
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233377
    reference: chr 12
allele count: 1
allele frequency: 8.281436332317477e-6
allele num: 120752
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430906
  ensembl transcript: ENST00000478070
  gene symbol: MDM2
  hgvsc: ENST00000478070.1:c.*290A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000431110
  ensembl transcript: ENST00000481186
  gene symbol: MDM2
  hgvsc: ENST00000481186.1:c.*696A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000353611
  ensembl transcript: ENST00000360430
  gene symbol: MDM2
  hgvsc: ENST00000360430.2:c.639A>G
  hgvsp: ENST00000360430.2:c.639A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429692
  ensembl transcript: ENST00000496959
  gene symbol: MDM2
  hgvsc: ENST00000496959.1:c.*462A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.405A>G
  hgvsp: ENST00000393412.3:c.405A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258148
  ensembl transcript: ENST00000258148
  gene symbol: MDM2
  hgvsc: ENST00000258148.7:c.1077A>G
  hgvsp: ENST00000258148.7:c.1077A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.1242A>G
  hgvsp: ENST00000462284.1:c.1242A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377065
  ensembl transcript: ENST00000393413
  gene symbol: MDM2
  hgvsc: ENST00000393413.3:c.405A>G
  hgvsp: ENST00000393413.3:c.405A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.639A>G
  hgvsp: ENST00000540827.1:c.639A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444028
  ensembl transcript: ENST00000536089
  gene symbol: MDM2
  hgvsc: ENST00000536089.1:c.*692A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000299252
  ensembl transcript: ENST00000299252
  gene symbol: MDM2
  hgvsc: ENST00000299252.4:c.714A>G
  hgvsp: ENST00000299252.4:c.714A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377062
  ensembl transcript: ENST00000393410
  gene symbol: MDM2
  hgvsc: ENST00000393410.1:c.480A>G
  hgvsp: ENST00000393410.1:c.480A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000310742
  ensembl transcript: ENST00000311420
  gene symbol: MDM2
  hgvsc: ENST00000311420.9:c.*853A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444597
  ensembl transcript: ENST00000545204
  gene symbol: MDM2
  hgvsc: ENST00000545204.1:c.146A>G
  hgvsp: ENSP00000444597.1:p.Lys49Arg
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430257
  ensembl transcript: ENST00000517852
  gene symbol: MDM2
  hgvsc: ENST00000517852.1:c.157-16A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.561A>G
  hgvsp: ENST00000428863.2:c.561A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000335096
  ensembl transcript: ENST00000348801
  gene symbol: MDM2
  hgvsc: ENST00000348801.2:c.546A>G
  hgvsp: ENST00000348801.2:c.546A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.714A>G
  hgvsp: ENST00000356290.4:c.714A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445222
  ensembl transcript: ENST00000546048
  gene symbol: MDM2
  hgvsc: ENST00000546048.1:c.*52-178A>G
  variant of: http://identifiers.org/hgnc/6973
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys49Arg
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

12-69233383-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233383
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233383
    reference: chr 12
allele count: 4
allele frequency: 3.312519668085529e-5
allele num: 120754
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258148
  ensembl transcript: ENST00000258148
  gene symbol: MDM2
  hgvsc: ENST00000258148.7:c.1083T>C
  hgvsp: ENST00000258148.7:c.1083T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.645T>C
  hgvsp: ENST00000540827.1:c.645T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429021
  ensembl transcript: ENST00000393417
  gene symbol: MDM2
  hgvsc: ENST00000393417.3:c.*1104T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000335096
  ensembl transcript: ENST00000348801
  gene symbol: MDM2
  hgvsc: ENST00000348801.2:c.552T>C
  hgvsp: ENST00000348801.2:c.552T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.720T>C
  hgvsp: ENST00000356290.4:c.720T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.567T>C
  hgvsp: ENST00000428863.2:c.567T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444597
  ensembl transcript: ENST00000545204
  gene symbol: MDM2
  hgvsc: ENST00000545204.1:c.152T>C
  hgvsp: ENSP00000444597.1:p.Met51Thr
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000266624
  ensembl transcript: ENST00000350057
  gene symbol: MDM2
  hgvsc: ENST00000350057.5:c.1155T>C
  hgvsp: ENST00000350057.5:c.1155T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377065
  ensembl transcript: ENST00000393413
  gene symbol: MDM2
  hgvsc: ENST00000393413.3:c.411T>C
  hgvsp: ENST00000393413.3:c.411T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444566
  ensembl transcript: ENST00000542502
  gene symbol: MDM2
  hgvsc: ENST00000542502.1:c.*626T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000431110
  ensembl transcript: ENST00000481186
  gene symbol: MDM2
  hgvsc: ENST00000481186.1:c.*702T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377062
  ensembl transcript: ENST00000393410
  gene symbol: MDM2
  hgvsc: ENST00000393410.1:c.486T>C
  hgvsp: ENST00000393410.1:c.486T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000353611
  ensembl transcript: ENST00000360430
  gene symbol: MDM2
  hgvsc: ENST00000360430.2:c.645T>C
  hgvsp: ENST00000360430.2:c.645T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.1065T>C
  hgvsp: ENST00000258149.5:c.1065T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430257
  ensembl transcript: ENST00000517852
  gene symbol: MDM2
  hgvsc: ENST00000517852.1:c.157-10T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.411T>C
  hgvsp: ENST00000393412.3:c.411T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000299252
  ensembl transcript: ENST00000299252
  gene symbol: MDM2
  hgvsc: ENST00000299252.4:c.720T>C
  hgvsp: ENST00000299252.4:c.720T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429692
  ensembl transcript: ENST00000496959
  gene symbol: MDM2
  hgvsc: ENST00000496959.1:c.*468T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.1248T>C
  hgvsp: ENST00000462284.1:c.1248T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met51Thr
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

12-69233384-G-GTGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233384
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233387
    reference: chr 12
allele count: 1
allele frequency: 8.281162012653616e-6
allele num: 120756
alternate allele: GTGA
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.647_649dupTGA
  hgvsp: ENSP00000440932.1:p.Val216_Lys217insMet
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.1250_1252dupTGA
  hgvsp: ENSP00000417281.1:p.Val417_Lys418insMet
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377062
  ensembl transcript: ENST00000393410
  gene symbol: MDM2
  hgvsc: ENST00000393410.1:c.488_490dupTGA
  hgvsp: ENSP00000377062.1:p.Val163_Lys164insMet
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  consequence: inframe_insertion
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444597
  ensembl transcript: ENST00000545204
  gene symbol: MDM2
  hgvsc: ENST00000545204.1:c.154_156dupTGA
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000443450
  ensembl transcript: ENST00000537182
  gene symbol: MDM2
  hgvsc: ENST00000537182.1:c.*530_*532dupTGA
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.1067_1069dupTGA
  hgvsp: ENSP00000258149.5:p.Val356_Lys357insMet
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.569_571dupTGA
  hgvsp: ENSP00000410694.2:p.Val190_Lys191insMet
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430906
  ensembl transcript: ENST00000478070
  gene symbol: MDM2
  hgvsc: ENST00000478070.1:c.*298_*300dupTGA
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377065
  ensembl transcript: ENST00000393413
  gene symbol: MDM2
  hgvsc: ENST00000393413.3:c.413_415dupTGA
  hgvsp: ENSP00000377065.3:p.Val138_Lys139insMet
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000441841
  ensembl transcript: ENST00000544561
  gene symbol: MDM2
  hgvsc: ENST00000544561.1:c.184-157_184-155dupTGA
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000431110
  ensembl transcript: ENST00000481186
  gene symbol: MDM2
  hgvsc: ENST00000481186.1:c.*704_*706dupTGA
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000299252
  ensembl transcript: ENST00000299252
  gene symbol: MDM2
  hgvsc: ENST00000299252.4:c.722_724dupTGA
  hgvsp: ENSP00000299252.4:p.Val241_Lys242insMet
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000310742
  ensembl transcript: ENST00000311420
  gene symbol: MDM2
  hgvsc: ENST00000311420.9:c.*861_*863dupTGA
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258148
  ensembl transcript: ENST00000258148
  gene symbol: MDM2
  hgvsc: ENST00000258148.7:c.1085_1087dupTGA
  hgvsp: ENSP00000258148.7:p.Val362_Lys363insMet
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.722_724dupTGA
  hgvsp: ENSP00000348637.4:p.Val241_Lys242insMet
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.413_415dupTGA
  hgvsp: ENSP00000377064.3:p.Val138_Lys139insMet
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000353611
  ensembl transcript: ENST00000360430
  gene symbol: MDM2
  hgvsc: ENST00000360430.2:c.647_649dupTGA
  hgvsp: ENSP00000353611.2:p.Val216_Lys217insMet
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000266624
  ensembl transcript: ENST00000350057
  gene symbol: MDM2
  hgvsc: ENST00000350057.5:c.1157_1159dupTGA
  hgvsp: ENSP00000266624.9:p.Val386_Lys387insMet
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000335096
  ensembl transcript: ENST00000348801
  gene symbol: MDM2
  hgvsc: ENST00000348801.2:c.554_556dupTGA
  hgvsp: ENSP00000335096.3:p.Val185_Lys186insMet
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val417_Lys418insMet
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

12-69233397-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233397
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233397
    reference: chr 12
allele count: 1
allele frequency: 8.281162012653616e-6
allele num: 120756
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430906
  ensembl transcript: ENST00000478070
  gene symbol: MDM2
  hgvsc: ENST00000478070.1:c.*310A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377065
  ensembl transcript: ENST00000393413
  gene symbol: MDM2
  hgvsc: ENST00000393413.3:c.425A>G
  hgvsp: ENSP00000377065.3:p.Glu142Gly
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000310742
  ensembl transcript: ENST00000311420
  gene symbol: MDM2
  hgvsc: ENST00000311420.9:c.*873A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444597
  ensembl transcript: ENST00000545204
  gene symbol: MDM2
  hgvsc: ENST00000545204.1:c.*10A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429692
  ensembl transcript: ENST00000496959
  gene symbol: MDM2
  hgvsc: ENST00000496959.1:c.*482A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000443450
  ensembl transcript: ENST00000537182
  gene symbol: MDM2
  hgvsc: ENST00000537182.1:c.*542A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000335096
  ensembl transcript: ENST00000348801
  gene symbol: MDM2
  hgvsc: ENST00000348801.2:c.566A>G
  hgvsp: ENSP00000335096.3:p.Glu189Gly
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445222
  ensembl transcript: ENST00000546048
  gene symbol: MDM2
  hgvsc: ENST00000546048.1:c.*52-158A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444566
  ensembl transcript: ENST00000542502
  gene symbol: MDM2
  hgvsc: ENST00000542502.1:c.*640A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444028
  ensembl transcript: ENST00000536089
  gene symbol: MDM2
  hgvsc: ENST00000536089.1:c.*712A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445030
  ensembl transcript: ENST00000540352
  gene symbol: MDM2
  hgvsc: ENST00000540352.1:c.*570A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430257
  ensembl transcript: ENST00000517852
  gene symbol: MDM2
  hgvsc: ENST00000517852.1:c.161A>G
  hgvsp: ENSP00000430257.1:p.Glu54Gly
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.581A>G
  hgvsp: ENSP00000410694.2:p.Glu194Gly
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.1079A>G
  hgvsp: ENSP00000258149.5:p.Glu360Gly
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.425A>G
  hgvsp: ENSP00000377064.3:p.Glu142Gly
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000441841
  ensembl transcript: ENST00000544561
  gene symbol: MDM2
  hgvsc: ENST00000544561.1:c.184-145A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.659A>G
  hgvsp: ENSP00000440932.1:p.Glu220Gly
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.734A>G
  hgvsp: ENSP00000348637.4:p.Glu245Gly
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000431110
  ensembl transcript: ENST00000481186
  gene symbol: MDM2
  hgvsc: ENST00000481186.1:c.*716A>G
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu421Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-69233416-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233416
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233416
    reference: chr 12
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445030
  ensembl transcript: ENST00000540352
  gene symbol: MDM2
  hgvsc: ENST00000540352.1:c.*589C>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377062
  ensembl transcript: ENST00000393410
  gene symbol: MDM2
  hgvsc: ENST00000393410.1:c.519C>A
  hgvsp: ENSP00000377062.1:p.Asp173Glu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430906
  ensembl transcript: ENST00000478070
  gene symbol: MDM2
  hgvsc: ENST00000478070.1:c.*329C>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429692
  ensembl transcript: ENST00000496959
  gene symbol: MDM2
  hgvsc: ENST00000496959.1:c.*501C>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.600C>A
  hgvsp: ENSP00000410694.2:p.Asp200Glu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.444C>A
  hgvsp: ENSP00000377064.3:p.Asp148Glu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430257
  ensembl transcript: ENST00000517852
  gene symbol: MDM2
  hgvsc: ENST00000517852.1:c.180C>A
  hgvsp: ENSP00000430257.1:p.Asp60Glu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000299252
  ensembl transcript: ENST00000299252
  gene symbol: MDM2
  hgvsc: ENST00000299252.4:c.753C>A
  hgvsp: ENSP00000299252.4:p.Asp251Glu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.1281C>A
  hgvsp: ENSP00000417281.1:p.Asp427Glu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377065
  ensembl transcript: ENST00000393413
  gene symbol: MDM2
  hgvsc: ENST00000393413.3:c.444C>A
  hgvsp: ENSP00000377065.3:p.Asp148Glu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.1098C>A
  hgvsp: ENSP00000258149.5:p.Asp366Glu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000310742
  ensembl transcript: ENST00000311420
  gene symbol: MDM2
  hgvsc: ENST00000311420.9:c.*892C>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429021
  ensembl transcript: ENST00000393417
  gene symbol: MDM2
  hgvsc: ENST00000393417.3:c.*1137C>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.753C>A
  hgvsp: ENSP00000348637.4:p.Asp251Glu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000443450
  ensembl transcript: ENST00000537182
  gene symbol: MDM2
  hgvsc: ENST00000537182.1:c.*561C>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.678C>A
  hgvsp: ENSP00000440932.1:p.Asp226Glu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445222
  ensembl transcript: ENST00000546048
  gene symbol: MDM2
  hgvsc: ENST00000546048.1:c.*52-139C>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000431110
  ensembl transcript: ENST00000481186
  gene symbol: MDM2
  hgvsc: ENST00000481186.1:c.*735C>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444028
  ensembl transcript: ENST00000536089
  gene symbol: MDM2
  hgvsc: ENST00000536089.1:c.*731C>A
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp427Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

12-69233416-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233416
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233416
    reference: chr 12
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377065
  ensembl transcript: ENST00000393413
  gene symbol: MDM2
  hgvsc: ENST00000393413.3:c.444C>G
  hgvsp: ENSP00000377065.3:p.Asp148Glu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430257
  ensembl transcript: ENST00000517852
  gene symbol: MDM2
  hgvsc: ENST00000517852.1:c.180C>G
  hgvsp: ENSP00000430257.1:p.Asp60Glu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445222
  ensembl transcript: ENST00000546048
  gene symbol: MDM2
  hgvsc: ENST00000546048.1:c.*52-139C>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000310742
  ensembl transcript: ENST00000311420
  gene symbol: MDM2
  hgvsc: ENST00000311420.9:c.*892C>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.444C>G
  hgvsp: ENSP00000377064.3:p.Asp148Glu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.1098C>G
  hgvsp: ENSP00000258149.5:p.Asp366Glu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000353611
  ensembl transcript: ENST00000360430
  gene symbol: MDM2
  hgvsc: ENST00000360430.2:c.678C>G
  hgvsp: ENSP00000353611.2:p.Asp226Glu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.678C>G
  hgvsp: ENSP00000440932.1:p.Asp226Glu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258148
  ensembl transcript: ENST00000258148
  gene symbol: MDM2
  hgvsc: ENST00000258148.7:c.1116C>G
  hgvsp: ENSP00000258148.7:p.Asp372Glu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000443450
  ensembl transcript: ENST00000537182
  gene symbol: MDM2
  hgvsc: ENST00000537182.1:c.*561C>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429021
  ensembl transcript: ENST00000393417
  gene symbol: MDM2
  hgvsc: ENST00000393417.3:c.*1137C>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377062
  ensembl transcript: ENST00000393410
  gene symbol: MDM2
  hgvsc: ENST00000393410.1:c.519C>G
  hgvsp: ENSP00000377062.1:p.Asp173Glu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000266624
  ensembl transcript: ENST00000350057
  gene symbol: MDM2
  hgvsc: ENST00000350057.5:c.1188C>G
  hgvsp: ENSP00000266624.9:p.Asp396Glu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445030
  ensembl transcript: ENST00000540352
  gene symbol: MDM2
  hgvsc: ENST00000540352.1:c.*589C>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444597
  ensembl transcript: ENST00000545204
  gene symbol: MDM2
  hgvsc: ENST00000545204.1:c.*29C>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000335096
  ensembl transcript: ENST00000348801
  gene symbol: MDM2
  hgvsc: ENST00000348801.2:c.585C>G
  hgvsp: ENSP00000335096.3:p.Asp195Glu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000299252
  ensembl transcript: ENST00000299252
  gene symbol: MDM2
  hgvsc: ENST00000299252.4:c.753C>G
  hgvsp: ENSP00000299252.4:p.Asp251Glu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429692
  ensembl transcript: ENST00000496959
  gene symbol: MDM2
  hgvsc: ENST00000496959.1:c.*501C>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444028
  ensembl transcript: ENST00000536089
  gene symbol: MDM2
  hgvsc: ENST00000536089.1:c.*731C>G
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp427Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-69233438-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233438
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233438
    reference: chr 12
allele count: 3
allele frequency: 2.484142887898912e-5
allele num: 120766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.1120A>C
  hgvsp: ENSP00000258149.5:p.Ser374Arg
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.700A>C
  hgvsp: ENSP00000440932.1:p.Ser234Arg
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377065
  ensembl transcript: ENST00000393413
  gene symbol: MDM2
  hgvsc: ENST00000393413.3:c.466A>C
  hgvsp: ENSP00000377065.3:p.Ser156Arg
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444597
  ensembl transcript: ENST00000545204
  gene symbol: MDM2
  hgvsc: ENST00000545204.1:c.*51A>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.622A>C
  hgvsp: ENSP00000410694.2:p.Ser208Arg
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430257
  ensembl transcript: ENST00000517852
  gene symbol: MDM2
  hgvsc: ENST00000517852.1:c.202A>C
  hgvsp: ENSP00000430257.1:p.Ser68Arg
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.1303A>C
  hgvsp: ENSP00000417281.1:p.Ser435Arg
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.466A>C
  hgvsp: ENSP00000377064.3:p.Ser156Arg
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000299252
  ensembl transcript: ENST00000299252
  gene symbol: MDM2
  hgvsc: ENST00000299252.4:c.775A>C
  hgvsp: ENSP00000299252.4:p.Ser259Arg
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000431110
  ensembl transcript: ENST00000481186
  gene symbol: MDM2
  hgvsc: ENST00000481186.1:c.*757A>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000310742
  ensembl transcript: ENST00000311420
  gene symbol: MDM2
  hgvsc: ENST00000311420.9:c.*914A>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000266624
  ensembl transcript: ENST00000350057
  gene symbol: MDM2
  hgvsc: ENST00000350057.5:c.1210A>C
  hgvsp: ENSP00000266624.9:p.Ser404Arg
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000353611
  ensembl transcript: ENST00000360430
  gene symbol: MDM2
  hgvsc: ENST00000360430.2:c.700A>C
  hgvsp: ENSP00000353611.2:p.Ser234Arg
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000335096
  ensembl transcript: ENST00000348801
  gene symbol: MDM2
  hgvsc: ENST00000348801.2:c.607A>C
  hgvsp: ENSP00000335096.3:p.Ser203Arg
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429692
  ensembl transcript: ENST00000496959
  gene symbol: MDM2
  hgvsc: ENST00000496959.1:c.*523A>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.775A>C
  hgvsp: ENSP00000348637.4:p.Ser259Arg
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444566
  ensembl transcript: ENST00000542502
  gene symbol: MDM2
  hgvsc: ENST00000542502.1:c.*681A>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000443450
  ensembl transcript: ENST00000537182
  gene symbol: MDM2
  hgvsc: ENST00000537182.1:c.*583A>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000441841
  ensembl transcript: ENST00000544561
  gene symbol: MDM2
  hgvsc: ENST00000544561.1:c.184-104A>C
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser435Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

12-69233439-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233439
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233439
    reference: chr 12
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444566
  ensembl transcript: ENST00000542502
  gene symbol: MDM2
  hgvsc: ENST00000542502.1:c.*682G>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.776G>A
  hgvsp: ENSP00000348637.4:p.Ser259Asn
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430906
  ensembl transcript: ENST00000478070
  gene symbol: MDM2
  hgvsc: ENST00000478070.1:c.*352G>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.701G>A
  hgvsp: ENSP00000440932.1:p.Ser234Asn
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000266624
  ensembl transcript: ENST00000350057
  gene symbol: MDM2
  hgvsc: ENST00000350057.5:c.1211G>A
  hgvsp: ENSP00000266624.9:p.Ser404Asn
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258148
  ensembl transcript: ENST00000258148
  gene symbol: MDM2
  hgvsc: ENST00000258148.7:c.1139G>A
  hgvsp: ENSP00000258148.7:p.Ser380Asn
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444028
  ensembl transcript: ENST00000536089
  gene symbol: MDM2
  hgvsc: ENST00000536089.1:c.*754G>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.467G>A
  hgvsp: ENSP00000377064.3:p.Ser156Asn
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377062
  ensembl transcript: ENST00000393410
  gene symbol: MDM2
  hgvsc: ENST00000393410.1:c.542G>A
  hgvsp: ENSP00000377062.1:p.Ser181Asn
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429021
  ensembl transcript: ENST00000393417
  gene symbol: MDM2
  hgvsc: ENST00000393417.3:c.*1160G>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445222
  ensembl transcript: ENST00000546048
  gene symbol: MDM2
  hgvsc: ENST00000546048.1:c.*52-116G>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377065
  ensembl transcript: ENST00000393413
  gene symbol: MDM2
  hgvsc: ENST00000393413.3:c.467G>A
  hgvsp: ENSP00000377065.3:p.Ser156Asn
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000310742
  ensembl transcript: ENST00000311420
  gene symbol: MDM2
  hgvsc: ENST00000311420.9:c.*915G>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.1121G>A
  hgvsp: ENSP00000258149.5:p.Ser374Asn
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430257
  ensembl transcript: ENST00000517852
  gene symbol: MDM2
  hgvsc: ENST00000517852.1:c.203G>A
  hgvsp: ENSP00000430257.1:p.Ser68Asn
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000335096
  ensembl transcript: ENST00000348801
  gene symbol: MDM2
  hgvsc: ENST00000348801.2:c.608G>A
  hgvsp: ENSP00000335096.3:p.Ser203Asn
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000443450
  ensembl transcript: ENST00000537182
  gene symbol: MDM2
  hgvsc: ENST00000537182.1:c.*584G>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.1304G>A
  hgvsp: ENSP00000417281.1:p.Ser435Asn
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000431110
  ensembl transcript: ENST00000481186
  gene symbol: MDM2
  hgvsc: ENST00000481186.1:c.*758G>A
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser435Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

12-69233444-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233444
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233444
    reference: chr 12
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000335096
  ensembl transcript: ENST00000348801
  gene symbol: MDM2
  hgvsc: ENST00000348801.2:c.613C>T
  hgvsp: ENSP00000335096.3:p.Pro205Ser
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377062
  ensembl transcript: ENST00000393410
  gene symbol: MDM2
  hgvsc: ENST00000393410.1:c.547C>T
  hgvsp: ENSP00000377062.1:p.Pro183Ser
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258148
  ensembl transcript: ENST00000258148
  gene symbol: MDM2
  hgvsc: ENST00000258148.7:c.1144C>T
  hgvsp: ENSP00000258148.7:p.Pro382Ser
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.472C>T
  hgvsp: ENSP00000377064.3:p.Pro158Ser
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429692
  ensembl transcript: ENST00000496959
  gene symbol: MDM2
  hgvsc: ENST00000496959.1:c.*529C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.706C>T
  hgvsp: ENSP00000440932.1:p.Pro236Ser
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377065
  ensembl transcript: ENST00000393413
  gene symbol: MDM2
  hgvsc: ENST00000393413.3:c.472C>T
  hgvsp: ENSP00000377065.3:p.Pro158Ser
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444028
  ensembl transcript: ENST00000536089
  gene symbol: MDM2
  hgvsc: ENST00000536089.1:c.*759C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000266624
  ensembl transcript: ENST00000350057
  gene symbol: MDM2
  hgvsc: ENST00000350057.5:c.1216C>T
  hgvsp: ENSP00000266624.9:p.Pro406Ser
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.1309C>T
  hgvsp: ENSP00000417281.1:p.Pro437Ser
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430257
  ensembl transcript: ENST00000517852
  gene symbol: MDM2
  hgvsc: ENST00000517852.1:c.208C>T
  hgvsp: ENSP00000430257.1:p.Pro70Ser
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000353611
  ensembl transcript: ENST00000360430
  gene symbol: MDM2
  hgvsc: ENST00000360430.2:c.706C>T
  hgvsp: ENSP00000353611.2:p.Pro236Ser
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.1126C>T
  hgvsp: ENSP00000258149.5:p.Pro376Ser
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.781C>T
  hgvsp: ENSP00000348637.4:p.Pro261Ser
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445222
  ensembl transcript: ENST00000546048
  gene symbol: MDM2
  hgvsc: ENST00000546048.1:c.*52-111C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444566
  ensembl transcript: ENST00000542502
  gene symbol: MDM2
  hgvsc: ENST00000542502.1:c.*687C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000431110
  ensembl transcript: ENST00000481186
  gene symbol: MDM2
  hgvsc: ENST00000481186.1:c.*763C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445030
  ensembl transcript: ENST00000540352
  gene symbol: MDM2
  hgvsc: ENST00000540352.1:c.*617C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000441841
  ensembl transcript: ENST00000544561
  gene symbol: MDM2
  hgvsc: ENST00000544561.1:c.184-98C>T
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro437Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-69233447-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233447
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233447
    reference: chr 12
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429692
  ensembl transcript: ENST00000496959
  gene symbol: MDM2
  hgvsc: ENST00000496959.1:c.*532C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.784C>T
  hgvsp: ENSP00000348637.4:p.Leu262Phe
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377062
  ensembl transcript: ENST00000393410
  gene symbol: MDM2
  hgvsc: ENST00000393410.1:c.550C>T
  hgvsp: ENSP00000377062.1:p.Leu184Phe
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.709C>T
  hgvsp: ENSP00000440932.1:p.Leu237Phe
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.1129C>T
  hgvsp: ENSP00000258149.5:p.Leu377Phe
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258148
  ensembl transcript: ENST00000258148
  gene symbol: MDM2
  hgvsc: ENST00000258148.7:c.1147C>T
  hgvsp: ENSP00000258148.7:p.Leu383Phe
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429021
  ensembl transcript: ENST00000393417
  gene symbol: MDM2
  hgvsc: ENST00000393417.3:c.*1168C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.1312C>T
  hgvsp: ENSP00000417281.1:p.Leu438Phe
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.475C>T
  hgvsp: ENSP00000377064.3:p.Leu159Phe
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377065
  ensembl transcript: ENST00000393413
  gene symbol: MDM2
  hgvsc: ENST00000393413.3:c.475C>T
  hgvsp: ENSP00000377065.3:p.Leu159Phe
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000266624
  ensembl transcript: ENST00000350057
  gene symbol: MDM2
  hgvsc: ENST00000350057.5:c.1219C>T
  hgvsp: ENSP00000266624.9:p.Leu407Phe
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000431110
  ensembl transcript: ENST00000481186
  gene symbol: MDM2
  hgvsc: ENST00000481186.1:c.*766C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.631C>T
  hgvsp: ENSP00000410694.2:p.Leu211Phe
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430906
  ensembl transcript: ENST00000478070
  gene symbol: MDM2
  hgvsc: ENST00000478070.1:c.*360C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445030
  ensembl transcript: ENST00000540352
  gene symbol: MDM2
  hgvsc: ENST00000540352.1:c.*620C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000299252
  ensembl transcript: ENST00000299252
  gene symbol: MDM2
  hgvsc: ENST00000299252.4:c.784C>T
  hgvsp: ENSP00000299252.4:p.Leu262Phe
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430257
  ensembl transcript: ENST00000517852
  gene symbol: MDM2
  hgvsc: ENST00000517852.1:c.211C>T
  hgvsp: ENSP00000430257.1:p.Leu71Phe
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444597
  ensembl transcript: ENST00000545204
  gene symbol: MDM2
  hgvsc: ENST00000545204.1:c.*60C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444566
  ensembl transcript: ENST00000542502
  gene symbol: MDM2
  hgvsc: ENST00000542502.1:c.*690C>T
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu438Phe
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

12-69233456-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233456
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233456
    reference: chr 12
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000431110
  ensembl transcript: ENST00000481186
  gene symbol: MDM2
  hgvsc: ENST00000481186.1:c.*775A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429021
  ensembl transcript: ENST00000393417
  gene symbol: MDM2
  hgvsc: ENST00000393417.3:c.*1177A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444566
  ensembl transcript: ENST00000542502
  gene symbol: MDM2
  hgvsc: ENST00000542502.1:c.*699A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445030
  ensembl transcript: ENST00000540352
  gene symbol: MDM2
  hgvsc: ENST00000540352.1:c.*629A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.1138A>G
  hgvsp: ENSP00000258149.5:p.Ile380Val
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.793A>G
  hgvsp: ENSP00000348637.4:p.Ile265Val
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377062
  ensembl transcript: ENST00000393410
  gene symbol: MDM2
  hgvsc: ENST00000393410.1:c.559A>G
  hgvsp: ENSP00000377062.1:p.Ile187Val
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429692
  ensembl transcript: ENST00000496959
  gene symbol: MDM2
  hgvsc: ENST00000496959.1:c.*541A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000266624
  ensembl transcript: ENST00000350057
  gene symbol: MDM2
  hgvsc: ENST00000350057.5:c.1228A>G
  hgvsp: ENSP00000266624.9:p.Ile410Val
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000335096
  ensembl transcript: ENST00000348801
  gene symbol: MDM2
  hgvsc: ENST00000348801.2:c.625A>G
  hgvsp: ENSP00000335096.3:p.Ile209Val
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.640A>G
  hgvsp: ENSP00000410694.2:p.Ile214Val
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000353611
  ensembl transcript: ENST00000360430
  gene symbol: MDM2
  hgvsc: ENST00000360430.2:c.718A>G
  hgvsp: ENSP00000353611.2:p.Ile240Val
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445222
  ensembl transcript: ENST00000546048
  gene symbol: MDM2
  hgvsc: ENST00000546048.1:c.*52-99A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.484A>G
  hgvsp: ENSP00000377064.3:p.Ile162Val
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430257
  ensembl transcript: ENST00000517852
  gene symbol: MDM2
  hgvsc: ENST00000517852.1:c.220A>G
  hgvsp: ENSP00000430257.1:p.Ile74Val
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000299252
  ensembl transcript: ENST00000299252
  gene symbol: MDM2
  hgvsc: ENST00000299252.4:c.793A>G
  hgvsp: ENSP00000299252.4:p.Ile265Val
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.718A>G
  hgvsp: ENSP00000440932.1:p.Ile240Val
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377065
  ensembl transcript: ENST00000393413
  gene symbol: MDM2
  hgvsc: ENST00000393413.3:c.484A>G
  hgvsp: ENSP00000377065.3:p.Ile162Val
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000310742
  ensembl transcript: ENST00000311420
  gene symbol: MDM2
  hgvsc: ENST00000311420.9:c.*932A>G
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile441Val
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

12-69233458-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233458
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233458
    reference: chr 12
allele count: 2
allele frequency: 1.656095258599275e-5
allele num: 120766
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.1140T>G
  hgvsp: ENSP00000258149.5:p.Ile380Met
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000299252
  ensembl transcript: ENST00000299252
  gene symbol: MDM2
  hgvsc: ENST00000299252.4:c.795T>G
  hgvsp: ENSP00000299252.4:p.Ile265Met
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258148
  ensembl transcript: ENST00000258148
  gene symbol: MDM2
  hgvsc: ENST00000258148.7:c.1158T>G
  hgvsp: ENSP00000258148.7:p.Ile386Met
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000353611
  ensembl transcript: ENST00000360430
  gene symbol: MDM2
  hgvsc: ENST00000360430.2:c.720T>G
  hgvsp: ENSP00000353611.2:p.Ile240Met
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000441841
  ensembl transcript: ENST00000544561
  gene symbol: MDM2
  hgvsc: ENST00000544561.1:c.184-84T>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377062
  ensembl transcript: ENST00000393410
  gene symbol: MDM2
  hgvsc: ENST00000393410.1:c.561T>G
  hgvsp: ENSP00000377062.1:p.Ile187Met
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430906
  ensembl transcript: ENST00000478070
  gene symbol: MDM2
  hgvsc: ENST00000478070.1:c.*371T>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000335096
  ensembl transcript: ENST00000348801
  gene symbol: MDM2
  hgvsc: ENST00000348801.2:c.627T>G
  hgvsp: ENSP00000335096.3:p.Ile209Met
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377065
  ensembl transcript: ENST00000393413
  gene symbol: MDM2
  hgvsc: ENST00000393413.3:c.486T>G
  hgvsp: ENSP00000377065.3:p.Ile162Met
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.1323T>G
  hgvsp: ENSP00000417281.1:p.Ile441Met
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444028
  ensembl transcript: ENST00000536089
  gene symbol: MDM2
  hgvsc: ENST00000536089.1:c.*773T>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.795T>G
  hgvsp: ENSP00000348637.4:p.Ile265Met
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000266624
  ensembl transcript: ENST00000350057
  gene symbol: MDM2
  hgvsc: ENST00000350057.5:c.1230T>G
  hgvsp: ENSP00000266624.9:p.Ile410Met
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429021
  ensembl transcript: ENST00000393417
  gene symbol: MDM2
  hgvsc: ENST00000393417.3:c.*1179T>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.720T>G
  hgvsp: ENSP00000440932.1:p.Ile240Met
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445030
  ensembl transcript: ENST00000540352
  gene symbol: MDM2
  hgvsc: ENST00000540352.1:c.*631T>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000431110
  ensembl transcript: ENST00000481186
  gene symbol: MDM2
  hgvsc: ENST00000481186.1:c.*777T>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445222
  ensembl transcript: ENST00000546048
  gene symbol: MDM2
  hgvsc: ENST00000546048.1:c.*52-97T>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000443450
  ensembl transcript: ENST00000537182
  gene symbol: MDM2
  hgvsc: ENST00000537182.1:c.*603T>G
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile441Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

12-69233463-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233463
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233462
    reference: chr 12
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.1330delT
  hgvsp: ENSP00000417281.1:p.Cys444ValfsTer2
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000431110
  ensembl transcript: ENST00000481186
  gene symbol: MDM2
  hgvsc: ENST00000481186.1:c.*784delT
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000310742
  ensembl transcript: ENST00000311420
  gene symbol: MDM2
  hgvsc: ENST00000311420.9:c.*941delT
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444028
  ensembl transcript: ENST00000536089
  gene symbol: MDM2
  hgvsc: ENST00000536089.1:c.*780delT
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000335096
  ensembl transcript: ENST00000348801
  gene symbol: MDM2
  hgvsc: ENST00000348801.2:c.634delT
  hgvsp: ENSP00000335096.3:p.Cys212ValfsTer2
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000266624
  ensembl transcript: ENST00000350057
  gene symbol: MDM2
  hgvsc: ENST00000350057.5:c.1237delT
  hgvsp: ENSP00000266624.9:p.Cys413ValfsTer2
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444566
  ensembl transcript: ENST00000542502
  gene symbol: MDM2
  hgvsc: ENST00000542502.1:c.*708delT
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000441841
  ensembl transcript: ENST00000544561
  gene symbol: MDM2
  hgvsc: ENST00000544561.1:c.184-77delT
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.727delT
  hgvsp: ENSP00000440932.1:p.Cys243ValfsTer2
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258148
  ensembl transcript: ENST00000258148
  gene symbol: MDM2
  hgvsc: ENST00000258148.7:c.1165delT
  hgvsp: ENSP00000258148.7:p.Cys389ValfsTer2
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377065
  ensembl transcript: ENST00000393413
  gene symbol: MDM2
  hgvsc: ENST00000393413.3:c.493delT
  hgvsp: ENSP00000377065.3:p.Cys165ValfsTer2
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.649delT
  hgvsp: ENSP00000410694.2:p.Cys217ValfsTer2
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429692
  ensembl transcript: ENST00000496959
  gene symbol: MDM2
  hgvsc: ENST00000496959.1:c.*550delT
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000353611
  ensembl transcript: ENST00000360430
  gene symbol: MDM2
  hgvsc: ENST00000360430.2:c.727delT
  hgvsp: ENSP00000353611.2:p.Cys243ValfsTer2
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.493delT
  hgvsp: ENSP00000377064.3:p.Cys165ValfsTer2
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429021
  ensembl transcript: ENST00000393417
  gene symbol: MDM2
  hgvsc: ENST00000393417.3:c.*1186delT
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445222
  ensembl transcript: ENST00000546048
  gene symbol: MDM2
  hgvsc: ENST00000546048.1:c.*52-90delT
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430257
  ensembl transcript: ENST00000517852
  gene symbol: MDM2
  hgvsc: ENST00000517852.1:c.229delT
  hgvsp: ENSP00000430257.1:p.Cys77ValfsTer2
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000299252
  ensembl transcript: ENST00000299252
  gene symbol: MDM2
  hgvsc: ENST00000299252.4:c.802delT
  hgvsp: ENSP00000299252.4:p.Cys268ValfsTer2
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys444ValfsTer2
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
reference allele: CT
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

12-69233464-TTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233464
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233462
    reference: chr 12
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000431110
  ensembl transcript: ENST00000481186
  gene symbol: MDM2
  hgvsc: ENST00000481186.1:c.*788_*789delTG
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.1334_1335delTG
  hgvsp: ENSP00000417281.1:p.Val445AspfsTer7
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429021
  ensembl transcript: ENST00000393417
  gene symbol: MDM2
  hgvsc: ENST00000393417.3:c.*1190_*1191delTG
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377065
  ensembl transcript: ENST00000393413
  gene symbol: MDM2
  hgvsc: ENST00000393413.3:c.497_498delTG
  hgvsp: ENSP00000377065.3:p.Val166AspfsTer7
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.731_732delTG
  hgvsp: ENSP00000440932.1:p.Val244AspfsTer7
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000299252
  ensembl transcript: ENST00000299252
  gene symbol: MDM2
  hgvsc: ENST00000299252.4:c.806_807delTG
  hgvsp: ENSP00000299252.4:p.Val269AspfsTer7
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258148
  ensembl transcript: ENST00000258148
  gene symbol: MDM2
  hgvsc: ENST00000258148.7:c.1169_1170delTG
  hgvsp: ENSP00000258148.7:p.Val390AspfsTer7
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.497_498delTG
  hgvsp: ENSP00000377064.3:p.Val166AspfsTer7
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000310742
  ensembl transcript: ENST00000311420
  gene symbol: MDM2
  hgvsc: ENST00000311420.9:c.*945_*946delTG
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430906
  ensembl transcript: ENST00000478070
  gene symbol: MDM2
  hgvsc: ENST00000478070.1:c.*382_*383delTG
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.1151_1152delTG
  hgvsp: ENSP00000258149.5:p.Val384AspfsTer7
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430257
  ensembl transcript: ENST00000517852
  gene symbol: MDM2
  hgvsc: ENST00000517852.1:c.233_234delTG
  hgvsp: ENSP00000430257.1:p.Val78AspfsTer7
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000353611
  ensembl transcript: ENST00000360430
  gene symbol: MDM2
  hgvsc: ENST00000360430.2:c.731_732delTG
  hgvsp: ENSP00000353611.2:p.Val244AspfsTer7
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000443450
  ensembl transcript: ENST00000537182
  gene symbol: MDM2
  hgvsc: ENST00000537182.1:c.*614_*615delTG
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000335096
  ensembl transcript: ENST00000348801
  gene symbol: MDM2
  hgvsc: ENST00000348801.2:c.638_639delTG
  hgvsp: ENSP00000335096.3:p.Val213AspfsTer7
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377062
  ensembl transcript: ENST00000393410
  gene symbol: MDM2
  hgvsc: ENST00000393410.1:c.572_573delTG
  hgvsp: ENSP00000377062.1:p.Val191AspfsTer7
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444566
  ensembl transcript: ENST00000542502
  gene symbol: MDM2
  hgvsc: ENST00000542502.1:c.*712_*713delTG
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000441841
  ensembl transcript: ENST00000544561
  gene symbol: MDM2
  hgvsc: ENST00000544561.1:c.184-73_184-72delTG
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.653_654delTG
  hgvsp: ENSP00000410694.2:p.Val218AspfsTer7
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val445AspfsTer7
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: TTG
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

12-69233466-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233466
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233466
    reference: chr 12
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000353611
  ensembl transcript: ENST00000360430
  gene symbol: MDM2
  hgvsc: ENST00000360430.2:c.728G>A
  hgvsp: ENSP00000353611.2:p.Cys243Tyr
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.1331G>A
  hgvsp: ENSP00000417281.1:p.Cys444Tyr
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.728G>A
  hgvsp: ENSP00000440932.1:p.Cys243Tyr
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.494G>A
  hgvsp: ENSP00000377064.3:p.Cys165Tyr
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377062
  ensembl transcript: ENST00000393410
  gene symbol: MDM2
  hgvsc: ENST00000393410.1:c.569G>A
  hgvsp: ENSP00000377062.1:p.Cys190Tyr
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444597
  ensembl transcript: ENST00000545204
  gene symbol: MDM2
  hgvsc: ENST00000545204.1:c.*79G>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258148
  ensembl transcript: ENST00000258148
  gene symbol: MDM2
  hgvsc: ENST00000258148.7:c.1166G>A
  hgvsp: ENSP00000258148.7:p.Cys389Tyr
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000443450
  ensembl transcript: ENST00000537182
  gene symbol: MDM2
  hgvsc: ENST00000537182.1:c.*611G>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429021
  ensembl transcript: ENST00000393417
  gene symbol: MDM2
  hgvsc: ENST00000393417.3:c.*1187G>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.1148G>A
  hgvsp: ENSP00000258149.5:p.Cys383Tyr
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.803G>A
  hgvsp: ENSP00000348637.4:p.Cys268Tyr
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000441841
  ensembl transcript: ENST00000544561
  gene symbol: MDM2
  hgvsc: ENST00000544561.1:c.184-76G>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445030
  ensembl transcript: ENST00000540352
  gene symbol: MDM2
  hgvsc: ENST00000540352.1:c.*639G>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430257
  ensembl transcript: ENST00000517852
  gene symbol: MDM2
  hgvsc: ENST00000517852.1:c.230G>A
  hgvsp: ENSP00000430257.1:p.Cys77Tyr
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000266624
  ensembl transcript: ENST00000350057
  gene symbol: MDM2
  hgvsc: ENST00000350057.5:c.1238G>A
  hgvsp: ENSP00000266624.9:p.Cys413Tyr
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444028
  ensembl transcript: ENST00000536089
  gene symbol: MDM2
  hgvsc: ENST00000536089.1:c.*781G>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377065
  ensembl transcript: ENST00000393413
  gene symbol: MDM2
  hgvsc: ENST00000393413.3:c.494G>A
  hgvsp: ENSP00000377065.3:p.Cys165Tyr
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000335096
  ensembl transcript: ENST00000348801
  gene symbol: MDM2
  hgvsc: ENST00000348801.2:c.635G>A
  hgvsp: ENSP00000335096.3:p.Cys212Tyr
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000431110
  ensembl transcript: ENST00000481186
  gene symbol: MDM2
  hgvsc: ENST00000481186.1:c.*785G>A
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys444Tyr
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

12-69233500-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233500
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233500
    reference: chr 12
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.837C>T
  hgvsp: ENST00000356290.4:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445222
  ensembl transcript: ENST00000546048
  gene symbol: MDM2
  hgvsc: ENST00000546048.1:c.*52-55C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.1182C>T
  hgvsp: ENST00000258149.5:c.1182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429692
  ensembl transcript: ENST00000496959
  gene symbol: MDM2
  hgvsc: ENST00000496959.1:c.*585C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429021
  ensembl transcript: ENST00000393417
  gene symbol: MDM2
  hgvsc: ENST00000393417.3:c.*1221C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000266624
  ensembl transcript: ENST00000350057
  gene symbol: MDM2
  hgvsc: ENST00000350057.5:c.1272C>T
  hgvsp: ENST00000350057.5:c.1272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000299252
  ensembl transcript: ENST00000299252
  gene symbol: MDM2
  hgvsc: ENST00000299252.4:c.837C>T
  hgvsp: ENST00000299252.4:c.837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.528C>T
  hgvsp: ENST00000393412.3:c.528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000353611
  ensembl transcript: ENST00000360430
  gene symbol: MDM2
  hgvsc: ENST00000360430.2:c.762C>T
  hgvsp: ENST00000360430.2:c.762C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430257
  ensembl transcript: ENST00000517852
  gene symbol: MDM2
  hgvsc: ENST00000517852.1:c.264C>T
  hgvsp: ENST00000517852.1:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377065
  ensembl transcript: ENST00000393413
  gene symbol: MDM2
  hgvsc: ENST00000393413.3:c.528C>T
  hgvsp: ENST00000393413.3:c.528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.1365C>T
  hgvsp: ENST00000462284.1:c.1365C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430906
  ensembl transcript: ENST00000478070
  gene symbol: MDM2
  hgvsc: ENST00000478070.1:c.*413C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.762C>T
  hgvsp: ENST00000540827.1:c.762C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.684C>T
  hgvsp: ENST00000428863.2:c.684C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377062
  ensembl transcript: ENST00000393410
  gene symbol: MDM2
  hgvsc: ENST00000393410.1:c.603C>T
  hgvsp: ENST00000393410.1:c.603C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445030
  ensembl transcript: ENST00000540352
  gene symbol: MDM2
  hgvsc: ENST00000540352.1:c.*673C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000335096
  ensembl transcript: ENST00000348801
  gene symbol: MDM2
  hgvsc: ENST00000348801.2:c.669C>T
  hgvsp: ENST00000348801.2:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444028
  ensembl transcript: ENST00000536089
  gene symbol: MDM2
  hgvsc: ENST00000536089.1:c.*815C>T
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys455Cys
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

12-69233503-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233503
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233503
    reference: chr 12
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000441841
  ensembl transcript: ENST00000544561
  gene symbol: MDM2
  hgvsc: ENST00000544561.1:c.184-39T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429692
  ensembl transcript: ENST00000496959
  gene symbol: MDM2
  hgvsc: ENST00000496959.1:c.*588T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430257
  ensembl transcript: ENST00000517852
  gene symbol: MDM2
  hgvsc: ENST00000517852.1:c.267T>C
  hgvsp: ENST00000517852.1:c.267T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.1185T>C
  hgvsp: ENST00000258149.5:c.1185T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000335096
  ensembl transcript: ENST00000348801
  gene symbol: MDM2
  hgvsc: ENST00000348801.2:c.672T>C
  hgvsp: ENST00000348801.2:c.672T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.531T>C
  hgvsp: ENST00000393412.3:c.531T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000299252
  ensembl transcript: ENST00000299252
  gene symbol: MDM2
  hgvsc: ENST00000299252.4:c.840T>C
  hgvsp: ENST00000299252.4:c.840T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429021
  ensembl transcript: ENST00000393417
  gene symbol: MDM2
  hgvsc: ENST00000393417.3:c.*1224T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.840T>C
  hgvsp: ENST00000356290.4:c.840T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000310742
  ensembl transcript: ENST00000311420
  gene symbol: MDM2
  hgvsc: ENST00000311420.9:c.*979T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444597
  ensembl transcript: ENST00000545204
  gene symbol: MDM2
  hgvsc: ENST00000545204.1:c.*116T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430906
  ensembl transcript: ENST00000478070
  gene symbol: MDM2
  hgvsc: ENST00000478070.1:c.*416T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.687T>C
  hgvsp: ENST00000428863.2:c.687T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000266624
  ensembl transcript: ENST00000350057
  gene symbol: MDM2
  hgvsc: ENST00000350057.5:c.1275T>C
  hgvsp: ENST00000350057.5:c.1275T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000431110
  ensembl transcript: ENST00000481186
  gene symbol: MDM2
  hgvsc: ENST00000481186.1:c.*822T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377065
  ensembl transcript: ENST00000393413
  gene symbol: MDM2
  hgvsc: ENST00000393413.3:c.531T>C
  hgvsp: ENST00000393413.3:c.531T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.765T>C
  hgvsp: ENST00000540827.1:c.765T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445222
  ensembl transcript: ENST00000546048
  gene symbol: MDM2
  hgvsc: ENST00000546048.1:c.*52-52T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000353611
  ensembl transcript: ENST00000360430
  gene symbol: MDM2
  hgvsc: ENST00000360430.2:c.765T>C
  hgvsp: ENST00000360430.2:c.765T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile456Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

12-69233530-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233530
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233530
    reference: chr 12
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.792G>C
  hgvsp: ENSP00000440932.1:p.Met264Ile
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000443450
  ensembl transcript: ENST00000537182
  gene symbol: MDM2
  hgvsc: ENST00000537182.1:c.*675G>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.1395G>C
  hgvsp: ENSP00000417281.1:p.Met465Ile
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445222
  ensembl transcript: ENST00000546048
  gene symbol: MDM2
  hgvsc: ENST00000546048.1:c.*52-25G>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430257
  ensembl transcript: ENST00000517852
  gene symbol: MDM2
  hgvsc: ENST00000517852.1:c.294G>C
  hgvsp: ENSP00000430257.1:p.Met98Ile
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429021
  ensembl transcript: ENST00000393417
  gene symbol: MDM2
  hgvsc: ENST00000393417.3:c.*1251G>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000299252
  ensembl transcript: ENST00000299252
  gene symbol: MDM2
  hgvsc: ENST00000299252.4:c.867G>C
  hgvsp: ENSP00000299252.4:p.Met289Ile
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444028
  ensembl transcript: ENST00000536089
  gene symbol: MDM2
  hgvsc: ENST00000536089.1:c.*845G>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000335096
  ensembl transcript: ENST00000348801
  gene symbol: MDM2
  hgvsc: ENST00000348801.2:c.699G>C
  hgvsp: ENSP00000335096.3:p.Met233Ile
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429692
  ensembl transcript: ENST00000496959
  gene symbol: MDM2
  hgvsc: ENST00000496959.1:c.*615G>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430906
  ensembl transcript: ENST00000478070
  gene symbol: MDM2
  hgvsc: ENST00000478070.1:c.*443G>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000310742
  ensembl transcript: ENST00000311420
  gene symbol: MDM2
  hgvsc: ENST00000311420.9:c.*1006G>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000353611
  ensembl transcript: ENST00000360430
  gene symbol: MDM2
  hgvsc: ENST00000360430.2:c.792G>C
  hgvsp: ENSP00000353611.2:p.Met264Ile
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377065
  ensembl transcript: ENST00000393413
  gene symbol: MDM2
  hgvsc: ENST00000393413.3:c.558G>C
  hgvsp: ENSP00000377065.3:p.Met186Ile
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377062
  ensembl transcript: ENST00000393410
  gene symbol: MDM2
  hgvsc: ENST00000393410.1:c.633G>C
  hgvsp: ENSP00000377062.1:p.Met211Ile
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.867G>C
  hgvsp: ENSP00000348637.4:p.Met289Ile
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.558G>C
  hgvsp: ENSP00000377064.3:p.Met186Ile
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.1212G>C
  hgvsp: ENSP00000258149.5:p.Met404Ile
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258148
  ensembl transcript: ENST00000258148
  gene symbol: MDM2
  hgvsc: ENST00000258148.7:c.1230G>C
  hgvsp: ENSP00000258148.7:p.Met410Ile
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met465Ile
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-69233536-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233536
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233536
    reference: chr 12
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.798C>T
  hgvsp: ENST00000540827.1:c.798C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000299252
  ensembl transcript: ENST00000299252
  gene symbol: MDM2
  hgvsc: ENST00000299252.4:c.873C>T
  hgvsp: ENST00000299252.4:c.873C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258148
  ensembl transcript: ENST00000258148
  gene symbol: MDM2
  hgvsc: ENST00000258148.7:c.1236C>T
  hgvsp: ENST00000258148.7:c.1236C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.1218C>T
  hgvsp: ENST00000258149.5:c.1218C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.1401C>T
  hgvsp: ENST00000462284.1:c.1401C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000266624
  ensembl transcript: ENST00000350057
  gene symbol: MDM2
  hgvsc: ENST00000350057.5:c.1308C>T
  hgvsp: ENST00000350057.5:c.1308C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377065
  ensembl transcript: ENST00000393413
  gene symbol: MDM2
  hgvsc: ENST00000393413.3:c.564C>T
  hgvsp: ENST00000393413.3:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000441841
  ensembl transcript: ENST00000544561
  gene symbol: MDM2
  hgvsc: ENST00000544561.1:c.184-6C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000335096
  ensembl transcript: ENST00000348801
  gene symbol: MDM2
  hgvsc: ENST00000348801.2:c.705C>T
  hgvsp: ENST00000348801.2:c.705C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430257
  ensembl transcript: ENST00000517852
  gene symbol: MDM2
  hgvsc: ENST00000517852.1:c.300C>T
  hgvsp: ENST00000517852.1:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444597
  ensembl transcript: ENST00000545204
  gene symbol: MDM2
  hgvsc: ENST00000545204.1:c.*149C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000310742
  ensembl transcript: ENST00000311420
  gene symbol: MDM2
  hgvsc: ENST00000311420.9:c.*1012C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444566
  ensembl transcript: ENST00000542502
  gene symbol: MDM2
  hgvsc: ENST00000542502.1:c.*779C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377062
  ensembl transcript: ENST00000393410
  gene symbol: MDM2
  hgvsc: ENST00000393410.1:c.639C>T
  hgvsp: ENST00000393410.1:c.639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000353611
  ensembl transcript: ENST00000360430
  gene symbol: MDM2
  hgvsc: ENST00000360430.2:c.798C>T
  hgvsp: ENST00000360430.2:c.798C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.564C>T
  hgvsp: ENST00000393412.3:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445222
  ensembl transcript: ENST00000546048
  gene symbol: MDM2
  hgvsc: ENST00000546048.1:c.*52-19C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.720C>T
  hgvsp: ENST00000428863.2:c.720C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429021
  ensembl transcript: ENST00000393417
  gene symbol: MDM2
  hgvsc: ENST00000393417.3:c.*1257C>T
  variant of: http://identifiers.org/hgnc/6973
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.184-6C>T
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-69233540-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233540
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233540
    reference: chr 12
allele count: 3
allele frequency: 2.484225170169424e-5
allele num: 120762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377062
  ensembl transcript: ENST00000393410
  gene symbol: MDM2
  hgvsc: ENST00000393410.1:c.643A>T
  hgvsp: ENSP00000377062.1:p.Thr215Ser
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444566
  ensembl transcript: ENST00000542502
  gene symbol: MDM2
  hgvsc: ENST00000542502.1:c.*783A>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.1405A>T
  hgvsp: ENSP00000417281.1:p.Thr469Ser
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.568A>T
  hgvsp: ENSP00000377064.3:p.Thr190Ser
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444597
  ensembl transcript: ENST00000545204
  gene symbol: MDM2
  hgvsc: ENST00000545204.1:c.*153A>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000335096
  ensembl transcript: ENST00000348801
  gene symbol: MDM2
  hgvsc: ENST00000348801.2:c.709A>T
  hgvsp: ENSP00000335096.3:p.Thr237Ser
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000266624
  ensembl transcript: ENST00000350057
  gene symbol: MDM2
  hgvsc: ENST00000350057.5:c.1312A>T
  hgvsp: ENSP00000266624.9:p.Thr438Ser
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000441841
  ensembl transcript: ENST00000544561
  gene symbol: MDM2
  hgvsc: ENST00000544561.1:c.184-2A>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430906
  ensembl transcript: ENST00000478070
  gene symbol: MDM2
  hgvsc: ENST00000478070.1:c.*453A>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.877A>T
  hgvsp: ENSP00000348637.4:p.Thr293Ser
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000310742
  ensembl transcript: ENST00000311420
  gene symbol: MDM2
  hgvsc: ENST00000311420.9:c.*1016A>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000299252
  ensembl transcript: ENST00000299252
  gene symbol: MDM2
  hgvsc: ENST00000299252.4:c.877A>T
  hgvsp: ENSP00000299252.4:p.Thr293Ser
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.802A>T
  hgvsp: ENSP00000440932.1:p.Thr268Ser
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000443450
  ensembl transcript: ENST00000537182
  gene symbol: MDM2
  hgvsc: ENST00000537182.1:c.*685A>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377065
  ensembl transcript: ENST00000393413
  gene symbol: MDM2
  hgvsc: ENST00000393413.3:c.568A>T
  hgvsp: ENSP00000377065.3:p.Thr190Ser
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445030
  ensembl transcript: ENST00000540352
  gene symbol: MDM2
  hgvsc: ENST00000540352.1:c.*713A>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445222
  ensembl transcript: ENST00000546048
  gene symbol: MDM2
  hgvsc: ENST00000546048.1:c.*52-15A>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000431110
  ensembl transcript: ENST00000481186
  gene symbol: MDM2
  hgvsc: ENST00000481186.1:c.*859A>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430257
  ensembl transcript: ENST00000517852
  gene symbol: MDM2
  hgvsc: ENST00000517852.1:c.304A>T
  hgvsp: ENSP00000430257.1:p.Thr102Ser
  variant of: http://identifiers.org/hgnc/6973
canonical: false
consequence: splice acceptor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.184-2A>T
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

12-69233582-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233582
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233582
    reference: chr 12
allele count: 1
allele frequency: 8.285827919925758e-6
allele num: 120688
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429021
  ensembl transcript: ENST00000393417
  gene symbol: MDM2
  hgvsc: ENST00000393417.3:c.*1303G>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000266624
  ensembl transcript: ENST00000350057
  gene symbol: MDM2
  hgvsc: ENST00000350057.5:c.1354G>T
  hgvsp: ENSP00000266624.9:p.Val452Leu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.919G>T
  hgvsp: ENSP00000348637.4:p.Val307Leu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000335096
  ensembl transcript: ENST00000348801
  gene symbol: MDM2
  hgvsc: ENST00000348801.2:c.751G>T
  hgvsp: ENSP00000335096.3:p.Val251Leu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445222
  ensembl transcript: ENST00000546048
  gene symbol: MDM2
  hgvsc: ENST00000546048.1:c.*79G>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430257
  ensembl transcript: ENST00000517852
  gene symbol: MDM2
  hgvsc: ENST00000517852.1:c.346G>T
  hgvsp: ENSP00000430257.1:p.Val116Leu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.610G>T
  hgvsp: ENSP00000377064.3:p.Val204Leu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377065
  ensembl transcript: ENST00000393413
  gene symbol: MDM2
  hgvsc: ENST00000393413.3:c.610G>T
  hgvsp: ENSP00000377065.3:p.Val204Leu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.1264G>T
  hgvsp: ENSP00000258149.5:p.Val422Leu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000310742
  ensembl transcript: ENST00000311420
  gene symbol: MDM2
  hgvsc: ENST00000311420.9:c.*1058G>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000299252
  ensembl transcript: ENST00000299252
  gene symbol: MDM2
  hgvsc: ENST00000299252.4:c.919G>T
  hgvsp: ENSP00000299252.4:p.Val307Leu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000431110
  ensembl transcript: ENST00000481186
  gene symbol: MDM2
  hgvsc: ENST00000481186.1:c.*901G>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430906
  ensembl transcript: ENST00000478070
  gene symbol: MDM2
  hgvsc: ENST00000478070.1:c.*495G>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444028
  ensembl transcript: ENST00000536089
  gene symbol: MDM2
  hgvsc: ENST00000536089.1:c.*897G>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429692
  ensembl transcript: ENST00000496959
  gene symbol: MDM2
  hgvsc: ENST00000496959.1:c.*667G>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.844G>T
  hgvsp: ENSP00000440932.1:p.Val282Leu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000353611
  ensembl transcript: ENST00000360430
  gene symbol: MDM2
  hgvsc: ENST00000360430.2:c.844G>T
  hgvsp: ENSP00000353611.2:p.Val282Leu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377062
  ensembl transcript: ENST00000393410
  gene symbol: MDM2
  hgvsc: ENST00000393410.1:c.685G>T
  hgvsp: ENSP00000377062.1:p.Val229Leu
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258148
  ensembl transcript: ENST00000258148
  gene symbol: MDM2
  hgvsc: ENST00000258148.7:c.1282G>T
  hgvsp: ENSP00000258148.7:p.Val428Leu
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val483Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

12-69233584-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233584
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233584
    reference: chr 12
allele count: 1
allele frequency: 8.286651861182008e-6
allele num: 120676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000353611
  ensembl transcript: ENST00000360430
  gene symbol: MDM2
  hgvsc: ENST00000360430.2:c.846A>T
  hgvsp: ENST00000360430.2:c.846A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444597
  ensembl transcript: ENST00000545204
  gene symbol: MDM2
  hgvsc: ENST00000545204.1:c.*197A>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430257
  ensembl transcript: ENST00000517852
  gene symbol: MDM2
  hgvsc: ENST00000517852.1:c.348A>T
  hgvsp: ENST00000517852.1:c.348A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.1266A>T
  hgvsp: ENST00000258149.5:c.1266A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.846A>T
  hgvsp: ENST00000540827.1:c.846A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000335096
  ensembl transcript: ENST00000348801
  gene symbol: MDM2
  hgvsc: ENST00000348801.2:c.753A>T
  hgvsp: ENST00000348801.2:c.753A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000266624
  ensembl transcript: ENST00000350057
  gene symbol: MDM2
  hgvsc: ENST00000350057.5:c.1356A>T
  hgvsp: ENST00000350057.5:c.1356A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429692
  ensembl transcript: ENST00000496959
  gene symbol: MDM2
  hgvsc: ENST00000496959.1:c.*669A>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.921A>T
  hgvsp: ENST00000356290.4:c.921A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000443450
  ensembl transcript: ENST00000537182
  gene symbol: MDM2
  hgvsc: ENST00000537182.1:c.*729A>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445030
  ensembl transcript: ENST00000540352
  gene symbol: MDM2
  hgvsc: ENST00000540352.1:c.*757A>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444028
  ensembl transcript: ENST00000536089
  gene symbol: MDM2
  hgvsc: ENST00000536089.1:c.*899A>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000299252
  ensembl transcript: ENST00000299252
  gene symbol: MDM2
  hgvsc: ENST00000299252.4:c.921A>T
  hgvsp: ENST00000299252.4:c.921A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.1449A>T
  hgvsp: ENST00000462284.1:c.1449A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430906
  ensembl transcript: ENST00000478070
  gene symbol: MDM2
  hgvsc: ENST00000478070.1:c.*497A>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377065
  ensembl transcript: ENST00000393413
  gene symbol: MDM2
  hgvsc: ENST00000393413.3:c.612A>T
  hgvsp: ENST00000393413.3:c.612A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429021
  ensembl transcript: ENST00000393417
  gene symbol: MDM2
  hgvsc: ENST00000393417.3:c.*1305A>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000431110
  ensembl transcript: ENST00000481186
  gene symbol: MDM2
  hgvsc: ENST00000481186.1:c.*903A>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377062
  ensembl transcript: ENST00000393410
  gene symbol: MDM2
  hgvsc: ENST00000393410.1:c.687A>T
  hgvsp: ENST00000393410.1:c.687A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val483Val
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

12-69233626-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233626
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233626
    reference: chr 12
allele count: 1
allele frequency: 8.506584096090374e-6
allele num: 117556
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.1491C>T
  hgvsp: ENST00000462284.1:c.1491C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000353611
  ensembl transcript: ENST00000360430
  gene symbol: MDM2
  hgvsc: ENST00000360430.2:c.888C>T
  hgvsp: ENST00000360430.2:c.888C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444597
  ensembl transcript: ENST00000545204
  gene symbol: MDM2
  hgvsc: ENST00000545204.1:c.*239C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377065
  ensembl transcript: ENST00000393413
  gene symbol: MDM2
  hgvsc: ENST00000393413.3:c.654C>T
  hgvsp: ENST00000393413.3:c.654C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000443450
  ensembl transcript: ENST00000537182
  gene symbol: MDM2
  hgvsc: ENST00000537182.1:c.*771C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258148
  ensembl transcript: ENST00000258148
  gene symbol: MDM2
  hgvsc: ENST00000258148.7:c.1326C>T
  hgvsp: ENST00000258148.7:c.1326C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444028
  ensembl transcript: ENST00000536089
  gene symbol: MDM2
  hgvsc: ENST00000536089.1:c.*941C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000335096
  ensembl transcript: ENST00000348801
  gene symbol: MDM2
  hgvsc: ENST00000348801.2:c.795C>T
  hgvsp: ENST00000348801.2:c.795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377062
  ensembl transcript: ENST00000393410
  gene symbol: MDM2
  hgvsc: ENST00000393410.1:c.729C>T
  hgvsp: ENST00000393410.1:c.729C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000310742
  ensembl transcript: ENST00000311420
  gene symbol: MDM2
  hgvsc: ENST00000311420.9:c.*1102C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.888C>T
  hgvsp: ENST00000540827.1:c.888C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000299252
  ensembl transcript: ENST00000299252
  gene symbol: MDM2
  hgvsc: ENST00000299252.4:c.963C>T
  hgvsp: ENST00000299252.4:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430257
  ensembl transcript: ENST00000517852
  gene symbol: MDM2
  hgvsc: ENST00000517852.1:c.390C>T
  hgvsp: ENST00000517852.1:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.1308C>T
  hgvsp: ENST00000258149.5:c.1308C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000430906
  ensembl transcript: ENST00000478070
  gene symbol: MDM2
  hgvsc: ENST00000478070.1:c.*539C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000444566
  ensembl transcript: ENST00000542502
  gene symbol: MDM2
  hgvsc: ENST00000542502.1:c.*869C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.654C>T
  hgvsp: ENST00000393412.3:c.654C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000445030
  ensembl transcript: ENST00000540352
  gene symbol: MDM2
  hgvsc: ENST00000540352.1:c.*799C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429021
  ensembl transcript: ENST00000393417
  gene symbol: MDM2
  hgvsc: ENST00000393417.3:c.*1347C>T
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro497Pro
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-69233634-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233634
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233634
    reference: chr 12
allele count: 1407
allele frequency: 1.246677299308878e-2
allele num: 112860
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000310742
  ensembl transcript: ENST00000311420
  gene symbol: MDM2
  hgvsc: ENST00000311420.9:c.*1110C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.*5C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000429021
  ensembl transcript: ENST00000393417
  gene symbol: MDM2
  hgvsc: ENST00000393417.3:c.*1355C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.*5C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.*5C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.*5C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258148
  ensembl transcript: ENST00000258148
  gene symbol: MDM2
  hgvsc: ENST00000258148.7:c.*5C>T
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24324
  bin: 2.75e1
  variant carriers: 199
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11600
  bin: 3.25e1
  variant carriers: 267
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 1.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 3.75e1
  variant carriers: 200
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.25e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 1.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 11203
  bin: 2.25e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 53
genotype quality: GenotypeQuality
  all individuals: 6501
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 9.75e1
  variant carriers: 1385
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 12
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS

12-69233649-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233649
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233649
    reference: chr 12
allele count: 1
allele frequency: 1.074506264371521e-5
allele num: 93066
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.*20A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.*20A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.*20A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.*20A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.*20A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.*20A>G
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12867
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13977
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23309
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4094
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

12-69233655-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233655
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233655
    reference: chr 12
allele count: 1
allele frequency: 1.275477666386062e-5
allele num: 78402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.*26T>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.*26T>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.*26T>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.*26T>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.*26T>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.*26T>A
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18796
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33716
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12790
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

12-69233657-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233657
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233657
    reference: chr 12
allele count: 2
allele frequency: 2.555975871587772e-5
allele num: 78248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.*28T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.*28T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.*28T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.*28T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.*28T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.*28T>C
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18791
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2678
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13563
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

12-69233675-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233675
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233675
    reference: chr 12
allele count: 2
allele frequency: 3.728560775540641e-5
allele num: 53640
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.*46T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.*46T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.*46T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.*46T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.*46T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.*46T>C
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8940
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18915
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4427
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9552
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

12-69233679-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233679
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233679
    reference: chr 12
allele count: 1
allele frequency: 2.020528570273984e-5
allele num: 49492
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.*50A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.*50A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.*50A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.*50A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.*50A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.*50A>G
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23881
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17827
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10861
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11463
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3712
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35617
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

12-69233682-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233682
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233682
    reference: chr 12
allele count: 1
allele frequency: 2.166659444468518e-5
allele num: 46154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.*53T>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.*53T>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.*53T>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.*53T>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.*53T>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.*53T>A
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16912
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12474
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

12-69233682-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233682
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233682
    reference: chr 12
allele count: 2
allele frequency: 4.333318888937037e-5
allele num: 46154
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.*53T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.*53T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.*53T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.*53T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.*53T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.*53T>C
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16912
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12474
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

12-69233691-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233691
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233691
    reference: chr 12
allele count: 1
allele frequency: 2.706946023496291e-5
allele num: 36942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.*62C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.*62C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.*62C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.*62C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.*62C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.*62C>T
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17361
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22930
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13997
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29625
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18186
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

12-69233695-AATTTATTCAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233695
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233685
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 33184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19835
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20649
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1887
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: AATTTATTCAC
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

12-69233699-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233699
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233699
    reference: chr 12
allele count: 1
allele frequency: 3.779003854583932e-5
allele num: 26462
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.*70T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.*70T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.*70T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.*70T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.*70T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.*70T>C
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20910
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23505
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9823
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3014
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

12-69233716-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233716
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233716
    reference: chr 12
allele count: 961
allele frequency: 5.738683864803535e-2
allele num: 16746
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.*87G>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.*87G>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.*87G>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.*87G>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.*87G>A
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.*87G>A
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 3.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 28625
  bin: 2.5e0
  variant carriers: 197
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 1.25e1
  variant carriers: 352
genotype depth: GenotypeDepth
  all individuals: 18740
  bin: 7.5e0
  variant carriers: 824
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 2.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 2.25e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 3.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 1.75e1
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.25e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 6.25e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 3.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 2.75e1
  variant carriers: 83
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 6.75e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 3.25e1
  variant carriers: 60
genotype quality: GenotypeQuality
  all individuals: 27758
  bin: 7.5e0
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 3264
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 4527
  bin: 1.25e1
  variant carriers: 72
genotype quality: GenotypeQuality
  all individuals: 11883
  bin: 2.25e1
  variant carriers: 95
genotype quality: GenotypeQuality
  all individuals: 2739
  bin: 1.75e1
  variant carriers: 122
num of homozygotes: 141
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

12-69233729-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69233729
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69233729
    reference: chr 12
allele count: 1
allele frequency: 8.081461128171973e-5
allele num: 12374
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.*100T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000377064
  ensembl transcript: ENST00000393412
  gene symbol: MDM2
  hgvsc: ENST00000393412.3:c.*100T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.*100T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.*100T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.*100T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.*100T>C
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6616
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6170
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5211
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-69236038-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69236038
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69236038
    reference: chr 12
allele count: 1
allele frequency: 9.28332714444857e-5
allele num: 10772
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.*2409A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447051
  ensembl transcript: ENST00000546556
  gene symbol: CPM
  hgvsc: ENST00000546556.1:c.*528T>C
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.*2409A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000256664
  ensembl transcript: ENST00000537570
  gene symbol: RP11-611O2.3
  hgvsc: ENST00000537570.1:n.313A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.*2409A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257181
  ensembl transcript: ENST00000553141
  gene symbol: RP11-611O2.5
  hgvsc: ENST00000553141.1:n.385-570T>C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.*2409A>G
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447455
  ensembl transcript: ENST00000551897
  gene symbol: CPM
  hgvsc: ENST00000551897.1:c.*9T>C
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.*2409A>G
  variant of: http://identifiers.org/hgnc/6973
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-69236039-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69236039
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69236039
    reference: chr 12
allele count: 1
allele frequency: 9.285051067780872e-5
allele num: 10770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.*2410C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.*2410C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.*2410C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.*2410C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447051
  ensembl transcript: ENST00000546556
  gene symbol: CPM
  hgvsc: ENST00000546556.1:c.*527G>A
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.*2410C>T
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447455
  ensembl transcript: ENST00000551897
  gene symbol: CPM
  hgvsc: ENST00000551897.1:c.*8G>A
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257181
  ensembl transcript: ENST00000553141
  gene symbol: RP11-611O2.5
  hgvsc: ENST00000553141.1:n.385-571G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000256664
  ensembl transcript: ENST00000537570
  gene symbol: RP11-611O2.3
  hgvsc: ENST00000537570.1:n.314C>T
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-69236049-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69236049
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69236049
    reference: chr 12
allele count: 2
allele frequency: 1.856320772229441e-4
allele num: 10774
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257181
  ensembl transcript: ENST00000553141
  gene symbol: RP11-611O2.5
  hgvsc: ENST00000553141.1:n.385-581T>G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.*2420A>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.*2420A>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447051
  ensembl transcript: ENST00000546556
  gene symbol: CPM
  hgvsc: ENST00000546556.1:c.*517T>G
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.*2420A>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447455
  ensembl transcript: ENST00000551897
  gene symbol: CPM
  hgvsc: ENST00000551897.1:c.594T>G
  hgvsp: ENSP00000447455.1:p.Ter199GlyextTer8
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.*2420A>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.*2420A>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000256664
  ensembl transcript: ENST00000537570
  gene symbol: RP11-611O2.3
  hgvsc: ENST00000537570.1:n.324A>C
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ter199GlyextTer8
num of homozygotes: 1
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

12-69236090-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69236090
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69236090
    reference: chr 12
allele count: 1
allele frequency: 9.28332714444857e-5
allele num: 10772
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447455
  ensembl transcript: ENST00000551897
  gene symbol: CPM
  hgvsc: ENST00000551897.1:c.553A>G
  hgvsp: ENSP00000447455.1:p.Asn185Ser
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000440932
  ensembl transcript: ENST00000540827
  gene symbol: MDM2
  hgvsc: ENST00000540827.1:c.*2461T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000258149
  ensembl transcript: ENST00000258149
  gene symbol: MDM2
  hgvsc: ENST00000258149.5:c.*2461T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447051
  ensembl transcript: ENST00000546556
  gene symbol: CPM
  hgvsc: ENST00000546556.1:c.*476A>G
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000410694
  ensembl transcript: ENST00000428863
  gene symbol: MDM2
  hgvsc: ENST00000428863.2:c.*2461T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000417281
  ensembl transcript: ENST00000462284
  gene symbol: MDM2
  hgvsc: ENST00000462284.1:c.*2461T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135679
  ensembl protein: ENSP00000348637
  ensembl transcript: ENST00000356290
  gene symbol: MDM2
  hgvsc: ENST00000356290.4:c.*2461T>C
  variant of: http://identifiers.org/hgnc/6973
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000256664
  ensembl transcript: ENST00000537570
  gene symbol: RP11-611O2.3
  hgvsc: ENST00000537570.1:n.365T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257181
  ensembl transcript: ENST00000553141
  gene symbol: RP11-611O2.5
  hgvsc: ENST00000553141.1:n.384+544A>G
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3975
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asn185Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

12-69250166-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69250166
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69250166
    reference: chr 12
allele count: 1
allele frequency: 8.790590551873274e-6
allele num: 113758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447255
  ensembl transcript: ENST00000546373
  gene symbol: CPM
  hgvsc: ENST00000546373.1:c.*51C>T
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447455
  ensembl transcript: ENST00000551897
  gene symbol: CPM
  hgvsc: ENST00000551897.1:c.533+258C>T
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447051
  ensembl transcript: ENST00000546556
  gene symbol: CPM
  hgvsc: ENST00000546556.1:c.*51C>T
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000339157
  ensembl transcript: ENST00000338356
  gene symbol: CPM
  hgvsc: ENST00000338356.3:c.*51C>T
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000448517
  ensembl transcript: ENST00000551568
  gene symbol: CPM
  hgvsc: ENST00000551568.1:c.*51C>T
  variant of: http://identifiers.org/hgnc/2311
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3032
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

12-69250168-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69250168
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69250168
    reference: chr 12
allele count: 4
allele frequency: 3.516730847004624e-5
allele num: 113742
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447051
  ensembl transcript: ENST00000546556
  gene symbol: CPM
  hgvsc: ENST00000546556.1:c.*49C>T
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000448517
  ensembl transcript: ENST00000551568
  gene symbol: CPM
  hgvsc: ENST00000551568.1:c.*49C>T
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447255
  ensembl transcript: ENST00000546373
  gene symbol: CPM
  hgvsc: ENST00000546373.1:c.*49C>T
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000339157
  ensembl transcript: ENST00000338356
  gene symbol: CPM
  hgvsc: ENST00000338356.3:c.*49C>T
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447455
  ensembl transcript: ENST00000551897
  gene symbol: CPM
  hgvsc: ENST00000551897.1:c.533+256C>T
  variant of: http://identifiers.org/hgnc/2311
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39696
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

12-69250173-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69250173
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69250173
    reference: chr 12
allele count: 1
allele frequency: 8.792909397861565e-6
allele num: 113728
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000339157
  ensembl transcript: ENST00000338356
  gene symbol: CPM
  hgvsc: ENST00000338356.3:c.*44G>C
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000448517
  ensembl transcript: ENST00000551568
  gene symbol: CPM
  hgvsc: ENST00000551568.1:c.*44G>C
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447455
  ensembl transcript: ENST00000551897
  gene symbol: CPM
  hgvsc: ENST00000551897.1:c.533+251G>C
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447051
  ensembl transcript: ENST00000546556
  gene symbol: CPM
  hgvsc: ENST00000546556.1:c.*44G>C
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447255
  ensembl transcript: ENST00000546373
  gene symbol: CPM
  hgvsc: ENST00000546373.1:c.*44G>C
  variant of: http://identifiers.org/hgnc/2311
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3265
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39689
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1996
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1433
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum

12-69250174-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69250174
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69250174
    reference: chr 12
allele count: 1
allele frequency: 8.790899660671274e-6
allele num: 113754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447051
  ensembl transcript: ENST00000546556
  gene symbol: CPM
  hgvsc: ENST00000546556.1:c.*43G>A
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447455
  ensembl transcript: ENST00000551897
  gene symbol: CPM
  hgvsc: ENST00000551897.1:c.533+250G>A
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000339157
  ensembl transcript: ENST00000338356
  gene symbol: CPM
  hgvsc: ENST00000338356.3:c.*43G>A
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447255
  ensembl transcript: ENST00000546373
  gene symbol: CPM
  hgvsc: ENST00000546373.1:c.*43G>A
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000448517
  ensembl transcript: ENST00000551568
  gene symbol: CPM
  hgvsc: ENST00000551568.1:c.*43G>A
  variant of: http://identifiers.org/hgnc/2311
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39685
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1433
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

12-69250175-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69250175
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69250175
    reference: chr 12
allele count: 1
allele frequency: 8.786728525235485e-6
allele num: 113808
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447455
  ensembl transcript: ENST00000551897
  gene symbol: CPM
  hgvsc: ENST00000551897.1:c.533+249G>A
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447255
  ensembl transcript: ENST00000546373
  gene symbol: CPM
  hgvsc: ENST00000546373.1:c.*42G>A
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447051
  ensembl transcript: ENST00000546556
  gene symbol: CPM
  hgvsc: ENST00000546556.1:c.*42G>A
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000448517
  ensembl transcript: ENST00000551568
  gene symbol: CPM
  hgvsc: ENST00000551568.1:c.*42G>A
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000339157
  ensembl transcript: ENST00000338356
  gene symbol: CPM
  hgvsc: ENST00000338356.3:c.*42G>A
  variant of: http://identifiers.org/hgnc/2311
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39683
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

12-69250176-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69250176
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69250176
    reference: chr 12
allele count: 6
allele frequency: 5.267593763168985e-5
allele num: 113904
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447455
  ensembl transcript: ENST00000551897
  gene symbol: CPM
  hgvsc: ENST00000551897.1:c.533+248A>G
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447051
  ensembl transcript: ENST00000546556
  gene symbol: CPM
  hgvsc: ENST00000546556.1:c.*41A>G
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000339157
  ensembl transcript: ENST00000338356
  gene symbol: CPM
  hgvsc: ENST00000338356.3:c.*41A>G
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000448517
  ensembl transcript: ENST00000551568
  gene symbol: CPM
  hgvsc: ENST00000551568.1:c.*41A>G
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447255
  ensembl transcript: ENST00000546373
  gene symbol: CPM
  hgvsc: ENST00000546373.1:c.*41A>G
  variant of: http://identifiers.org/hgnc/2311
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5263
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2521
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3283
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-69250180-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69250180
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69250180
    reference: chr 12
allele count: 1
allele frequency: 8.770698849284312e-6
allele num: 114016
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447455
  ensembl transcript: ENST00000551897
  gene symbol: CPM
  hgvsc: ENST00000551897.1:c.533+244A>C
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000448517
  ensembl transcript: ENST00000551568
  gene symbol: CPM
  hgvsc: ENST00000551568.1:c.*37A>C
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000339157
  ensembl transcript: ENST00000338356
  gene symbol: CPM
  hgvsc: ENST00000338356.3:c.*37A>C
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447051
  ensembl transcript: ENST00000546556
  gene symbol: CPM
  hgvsc: ENST00000546556.1:c.*37A>C
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447255
  ensembl transcript: ENST00000546373
  gene symbol: CPM
  hgvsc: ENST00000546373.1:c.*37A>C
  variant of: http://identifiers.org/hgnc/2311
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

12-69250181-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69250181
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69250181
    reference: chr 12
allele count: 1
allele frequency: 8.774084862948794e-6
allele num: 113972
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447255
  ensembl transcript: ENST00000546373
  gene symbol: CPM
  hgvsc: ENST00000546373.1:c.*36G>C
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000448517
  ensembl transcript: ENST00000551568
  gene symbol: CPM
  hgvsc: ENST00000551568.1:c.*36G>C
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447455
  ensembl transcript: ENST00000551897
  gene symbol: CPM
  hgvsc: ENST00000551897.1:c.533+243G>C
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447051
  ensembl transcript: ENST00000546556
  gene symbol: CPM
  hgvsc: ENST00000546556.1:c.*36G>C
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000339157
  ensembl transcript: ENST00000338356
  gene symbol: CPM
  hgvsc: ENST00000338356.3:c.*36G>C
  variant of: http://identifiers.org/hgnc/2311
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3445
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2520
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39680
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-69250182-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69250182
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69250182
    reference: chr 12
allele count: 1
allele frequency: 8.770083491194836e-6
allele num: 114024
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000448517
  ensembl transcript: ENST00000551568
  gene symbol: CPM
  hgvsc: ENST00000551568.1:c.*35G>A
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447255
  ensembl transcript: ENST00000546373
  gene symbol: CPM
  hgvsc: ENST00000546373.1:c.*35G>A
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000339157
  ensembl transcript: ENST00000338356
  gene symbol: CPM
  hgvsc: ENST00000338356.3:c.*35G>A
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447051
  ensembl transcript: ENST00000546556
  gene symbol: CPM
  hgvsc: ENST00000546556.1:c.*35G>A
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447455
  ensembl transcript: ENST00000551897
  gene symbol: CPM
  hgvsc: ENST00000551897.1:c.533+242G>A
  variant of: http://identifiers.org/hgnc/2311
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39679
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3481
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

12-69250191-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69250191
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69250191
    reference: chr 12
allele count: 2
allele frequency: 1.744865732581878e-5
allele num: 114622
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000339157
  ensembl transcript: ENST00000338356
  gene symbol: CPM
  hgvsc: ENST00000338356.3:c.*26T>A
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447051
  ensembl transcript: ENST00000546556
  gene symbol: CPM
  hgvsc: ENST00000546556.1:c.*26T>A
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447455
  ensembl transcript: ENST00000551897
  gene symbol: CPM
  hgvsc: ENST00000551897.1:c.533+233T>A
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447255
  ensembl transcript: ENST00000546373
  gene symbol: CPM
  hgvsc: ENST00000546373.1:c.*26T>A
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000448517
  ensembl transcript: ENST00000551568
  gene symbol: CPM
  hgvsc: ENST00000551568.1:c.*26T>A
  variant of: http://identifiers.org/hgnc/2311
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6277
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6173
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3028
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3854
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39678
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

12-69250192-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69250192
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69250192
    reference: chr 12
allele count: 1
allele frequency: 8.718851901581599e-6
allele num: 114694
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000339157
  ensembl transcript: ENST00000338356
  gene symbol: CPM
  hgvsc: ENST00000338356.3:c.*25A>G
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447255
  ensembl transcript: ENST00000546373
  gene symbol: CPM
  hgvsc: ENST00000546373.1:c.*25A>G
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447455
  ensembl transcript: ENST00000551897
  gene symbol: CPM
  hgvsc: ENST00000551897.1:c.533+232A>G
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447051
  ensembl transcript: ENST00000546556
  gene symbol: CPM
  hgvsc: ENST00000546556.1:c.*25A>G
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000448517
  ensembl transcript: ENST00000551568
  gene symbol: CPM
  hgvsc: ENST00000551568.1:c.*25A>G
  variant of: http://identifiers.org/hgnc/2311
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
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genotype quality: GenotypeQuality
  all individuals: 3048
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39678
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

12-69250199-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69250199
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69250199
    reference: chr 12
allele count: 1
allele frequency: 8.670169415110372e-6
allele num: 115338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000339157
  ensembl transcript: ENST00000338356
  gene symbol: CPM
  hgvsc: ENST00000338356.3:c.*18A>G
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447255
  ensembl transcript: ENST00000546373
  gene symbol: CPM
  hgvsc: ENST00000546373.1:c.*18A>G
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447455
  ensembl transcript: ENST00000551897
  gene symbol: CPM
  hgvsc: ENST00000551897.1:c.533+225A>G
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447051
  ensembl transcript: ENST00000546556
  gene symbol: CPM
  hgvsc: ENST00000546556.1:c.*18A>G
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000448517
  ensembl transcript: ENST00000551568
  gene symbol: CPM
  hgvsc: ENST00000551568.1:c.*18A>G
  variant of: http://identifiers.org/hgnc/2311
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2962
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4572
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

12-69250199-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69250199
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69250199
    reference: chr 12
allele count: 1
allele frequency: 8.670169415110372e-6
allele num: 115338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447255
  ensembl transcript: ENST00000546373
  gene symbol: CPM
  hgvsc: ENST00000546373.1:c.*18A>C
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000448517
  ensembl transcript: ENST00000551568
  gene symbol: CPM
  hgvsc: ENST00000551568.1:c.*18A>C
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447051
  ensembl transcript: ENST00000546556
  gene symbol: CPM
  hgvsc: ENST00000546556.1:c.*18A>C
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000339157
  ensembl transcript: ENST00000338356
  gene symbol: CPM
  hgvsc: ENST00000338356.3:c.*18A>C
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447455
  ensembl transcript: ENST00000551897
  gene symbol: CPM
  hgvsc: ENST00000551897.1:c.533+225A>C
  variant of: http://identifiers.org/hgnc/2311
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2962
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

12-69250203-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69250203
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69250203
    reference: chr 12
allele count: 1
allele frequency: 8.624853377492582e-6
allele num: 115944
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000339157
  ensembl transcript: ENST00000338356
  gene symbol: CPM
  hgvsc: ENST00000338356.3:c.*14A>T
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447255
  ensembl transcript: ENST00000546373
  gene symbol: CPM
  hgvsc: ENST00000546373.1:c.*14A>T
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447455
  ensembl transcript: ENST00000551897
  gene symbol: CPM
  hgvsc: ENST00000551897.1:c.533+221A>T
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447051
  ensembl transcript: ENST00000546556
  gene symbol: CPM
  hgvsc: ENST00000546556.1:c.*14A>T
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000448517
  ensembl transcript: ENST00000551568
  gene symbol: CPM
  hgvsc: ENST00000551568.1:c.*14A>T
  variant of: http://identifiers.org/hgnc/2311
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2086
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-69250212-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69250212
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69250212
    reference: chr 12
allele count: 1
allele frequency: 8.489685032685287e-6
allele num: 117790
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447455
  ensembl transcript: ENST00000551897
  gene symbol: CPM
  hgvsc: ENST00000551897.1:c.533+212A>T
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000448517
  ensembl transcript: ENST00000551568
  gene symbol: CPM
  hgvsc: ENST00000551568.1:c.*5A>T
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447255
  ensembl transcript: ENST00000546373
  gene symbol: CPM
  hgvsc: ENST00000546373.1:c.*5A>T
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000339157
  ensembl transcript: ENST00000338356
  gene symbol: CPM
  hgvsc: ENST00000338356.3:c.*5A>T
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447051
  ensembl transcript: ENST00000546556
  gene symbol: CPM
  hgvsc: ENST00000546556.1:c.*5A>T
  variant of: http://identifiers.org/hgnc/2311
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6278
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39680
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1841
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/12-69250241-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69250241
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69250241
    reference: chr 12
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000339157
  ensembl transcript: ENST00000338356
  gene symbol: CPM
  hgvsc: ENST00000338356.3:c.1308T>G
  hgvsp: ENSP00000339157.3:p.Ser436Arg
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000448517
  ensembl transcript: ENST00000551568
  gene symbol: CPM
  hgvsc: ENST00000551568.1:c.1308T>G
  hgvsp: ENSP00000448517.1:p.Ser436Arg
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447455
  ensembl transcript: ENST00000551897
  gene symbol: CPM
  hgvsc: ENST00000551897.1:c.533+183T>G
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447255
  ensembl transcript: ENST00000546373
  gene symbol: CPM
  hgvsc: ENST00000546373.1:c.1308T>G
  hgvsp: ENSP00000447255.1:p.Ser436Arg
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447051
  ensembl transcript: ENST00000546556
  gene symbol: CPM
  hgvsc: ENST00000546556.1:c.84T>G
  hgvsp: ENSP00000447051.1:p.Ser28Arg
  variant of: http://identifiers.org/hgnc/2311
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2517
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8734
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser436Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

12-69250241-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69250241
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69250241
    reference: chr 12
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000448517
  ensembl transcript: ENST00000551568
  gene symbol: CPM
  hgvsc: ENST00000551568.1:c.1308T>C
  hgvsp: ENST00000551568.1:c.1308T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447255
  ensembl transcript: ENST00000546373
  gene symbol: CPM
  hgvsc: ENST00000546373.1:c.1308T>C
  hgvsp: ENST00000546373.1:c.1308T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447051
  ensembl transcript: ENST00000546556
  gene symbol: CPM
  hgvsc: ENST00000546556.1:c.84T>C
  hgvsp: ENST00000546556.1:c.84T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447455
  ensembl transcript: ENST00000551897
  gene symbol: CPM
  hgvsc: ENST00000551897.1:c.533+183T>C
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000339157
  ensembl transcript: ENST00000338356
  gene symbol: CPM
  hgvsc: ENST00000338356.3:c.1308T>C
  hgvsp: ENST00000338356.3:c.1308T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2311
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39681
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8734
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser436Ser
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

12-69250245-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69250245
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69250245
    reference: chr 12
allele count: 2
allele frequency: 1.649402916144356e-5
allele num: 121256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447051
  ensembl transcript: ENST00000546556
  gene symbol: CPM
  hgvsc: ENST00000546556.1:c.80T>A
  hgvsp: ENSP00000447051.1:p.Val27Glu
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447255
  ensembl transcript: ENST00000546373
  gene symbol: CPM
  hgvsc: ENST00000546373.1:c.1304T>A
  hgvsp: ENSP00000447255.1:p.Val435Glu
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447455
  ensembl transcript: ENST00000551897
  gene symbol: CPM
  hgvsc: ENST00000551897.1:c.533+179T>A
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000448517
  ensembl transcript: ENST00000551568
  gene symbol: CPM
  hgvsc: ENST00000551568.1:c.1304T>A
  hgvsp: ENSP00000448517.1:p.Val435Glu
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000339157
  ensembl transcript: ENST00000338356
  gene symbol: CPM
  hgvsc: ENST00000338356.3:c.1304T>A
  hgvsp: ENSP00000339157.3:p.Val435Glu
  variant of: http://identifiers.org/hgnc/2311
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6284
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2071
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8802
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val435Glu
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/12-69250249-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69250249
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69250249
    reference: chr 12
allele count: 4
allele frequency: 3.297391763115376e-5
allele num: 121308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447051
  ensembl transcript: ENST00000546556
  gene symbol: CPM
  hgvsc: ENST00000546556.1:c.76T>G
  hgvsp: ENSP00000447051.1:p.Leu26Val
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000448517
  ensembl transcript: ENST00000551568
  gene symbol: CPM
  hgvsc: ENST00000551568.1:c.1300T>G
  hgvsp: ENSP00000448517.1:p.Leu434Val
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447455
  ensembl transcript: ENST00000551897
  gene symbol: CPM
  hgvsc: ENST00000551897.1:c.533+175T>G
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000339157
  ensembl transcript: ENST00000338356
  gene symbol: CPM
  hgvsc: ENST00000338356.3:c.1300T>G
  hgvsp: ENSP00000339157.3:p.Leu434Val
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447255
  ensembl transcript: ENST00000546373
  gene symbol: CPM
  hgvsc: ENST00000546373.1:c.1300T>G
  hgvsp: ENSP00000447255.1:p.Leu434Val
  variant of: http://identifiers.org/hgnc/2311
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6177
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8869
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39683
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Leu434Val
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

12-69250263-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 69250263
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 69250263
    reference: chr 12
allele count: 8
allele frequency: 6.592501030078285e-5
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000339157
  ensembl transcript: ENST00000338356
  gene symbol: CPM
  hgvsc: ENST00000338356.3:c.1286G>C
  hgvsp: ENSP00000339157.3:p.Ser429Thr
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447255
  ensembl transcript: ENST00000546373
  gene symbol: CPM
  hgvsc: ENST00000546373.1:c.1286G>C
  hgvsp: ENSP00000447255.1:p.Ser429Thr
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447051
  ensembl transcript: ENST00000546556
  gene symbol: CPM
  hgvsc: ENST00000546556.1:c.62G>C
  hgvsp: ENSP00000447051.1:p.Ser21Thr
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000448517
  ensembl transcript: ENST00000551568
  gene symbol: CPM
  hgvsc: ENST00000551568.1:c.1286G>C
  hgvsp: ENSP00000448517.1:p.Ser429Thr
  variant of: http://identifiers.org/hgnc/2311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135678
  ensembl protein: ENSP00000447455
  ensembl transcript: ENST00000551897
  gene symbol: CPM
  hgvsc: ENST00000551897.1:c.533+161G>C
  variant of: http://identifiers.org/hgnc/2311
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5280
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2517
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser429Thr
num of homozygotes: 0
reference allele: C

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000377062
ensembl transcript: ENST00000393410
gene symbol: MDM2
hgvsc: ENST00000393410.1:c.470A>G
hgvsp: ENSP00000377062.1:p.Tyr157Cys
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000429692
ensembl transcript: ENST00000496959
gene symbol: MDM2
hgvsc: ENST00000496959.1:c.*452A>G
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000266624
ensembl transcript: ENST00000350057
gene symbol: MDM2
hgvsc: ENST00000350057.5:c.1139A>G
hgvsp: ENSP00000266624.9:p.Tyr380Cys
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000441841
ensembl transcript: ENST00000544561
gene symbol: MDM2
hgvsc: ENST00000544561.1:c.184-175A>G
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000445030
ensembl transcript: ENST00000540352
gene symbol: MDM2
hgvsc: ENST00000540352.1:c.*540A>G
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444597
ensembl transcript: ENST00000545204
gene symbol: MDM2
hgvsc: ENST00000545204.1:c.136A>G
hgvsp: ENSP00000444597.1:p.Ile46Val
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000310742
ensembl transcript: ENST00000311420
gene symbol: MDM2
hgvsc: ENST00000311420.9:c.*843A>G
variant of: http://identifiers.org/hgnc/6973

GenotypeDepth
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 49
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 14795
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 13
bin: 1.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 20
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 9.75e1
variant carriers: 14

GenotypeDepth
all individuals: 28555
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 20
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 19
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2435
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13173
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 610
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8267
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1320
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 174
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47872
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 230
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 5
allele frequency: 5.796429399489915e-4
allele num: 8626
num of homozygotes: 0

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

African
type: Population
allele count: 16
allele frequency: 1.632986323739539e-3
allele num: 9798
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 4.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-1

QD
type: SiteQuality
SIO_000300: 1.515e1

DP
type: SiteQuality
SIO_000300: 1.679117e6

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.09e-1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000445030
ensembl transcript: ENST00000540352
gene symbol: MDM2
hgvsc: ENST00000540352.1:c.*543G>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000441841
ensembl transcript: ENST00000544561
gene symbol: MDM2
hgvsc: ENST00000544561.1:c.184-172G>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000431110
ensembl transcript: ENST00000481186
gene symbol: MDM2
hgvsc: ENST00000481186.1:c.*689G>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444597
ensembl transcript: ENST00000545204
gene symbol: MDM2
hgvsc: ENST00000545204.1:c.139G>T
hgvsp: ENSP00000444597.1:p.Ala47Ser
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000430906
ensembl transcript: ENST00000478070
gene symbol: MDM2
hgvsc: ENST00000478070.1:c.*283G>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444028
ensembl transcript: ENST00000536089
gene symbol: MDM2
hgvsc: ENST00000536089.1:c.*685G>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000348637
ensembl transcript: ENST00000356290
gene symbol: MDM2
hgvsc: ENST00000356290.4:c.707G>T
hgvsp: ENSP00000348637.4:p.Ser236Ile
variant of: http://identifiers.org/hgnc/6973

GenotypeDepth
all individuals: 20
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 14791
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28573
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2437
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 611
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 11
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13182
bin: 3.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 59
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1321
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47892
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1031
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 483
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8270
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

DP
type: SiteQuality
SIO_000300: 1.677533e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 2.888e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.574e0

VQSLOD
type: SiteQuality
SIO_000300: -1.024e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.22e-1

QD
type: SiteQuality
SIO_000300: 1.754e1

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.38e-2

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000429692
ensembl transcript: ENST00000496959
gene symbol: MDM2
hgvsc: ENST00000496959.1:c.*457A>G
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000431110
ensembl transcript: ENST00000481186
gene symbol: MDM2
hgvsc: ENST00000481186.1:c.*691A>G
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000417281
ensembl transcript: ENST00000462284
gene symbol: MDM2
hgvsc: ENST00000462284.1:c.1237A>G
hgvsp: ENSP00000417281.1:p.Ser413Gly
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000445222
ensembl transcript: ENST00000546048
gene symbol: MDM2
hgvsc: ENST00000546048.1:c.*52-183A>G
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000310742
ensembl transcript: ENST00000311420
gene symbol: MDM2
hgvsc: ENST00000311420.9:c.*848A>G
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000353611
ensembl transcript: ENST00000360430
gene symbol: MDM2
hgvsc: ENST00000360430.2:c.634A>G
hgvsp: ENSP00000353611.2:p.Ser212Gly
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000441841
ensembl transcript: ENST00000544561
gene symbol: MDM2
hgvsc: ENST00000544561.1:c.184-170A>G
variant of: http://identifiers.org/hgnc/6973

GenotypeDepth
all individuals: 2438
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14791
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 49
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28576
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 611
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 9
bin: 1.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 20
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13179
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 12
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 59
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 8272
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1320
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47898
bin: 6.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.28e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

FS
type: SiteQuality
SIO_000300: 8.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.95e0

DP
type: SiteQuality
SIO_000300: 1.677534e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.004e0

QD
type: SiteQuality
SIO_000300: 8.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000429021
ensembl transcript: ENST00000393417
gene symbol: MDM2
hgvsc: ENST00000393417.3:c.*1097A>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000441841
ensembl transcript: ENST00000544561
gene symbol: MDM2
hgvsc: ENST00000544561.1:c.184-166A>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000410694
ensembl transcript: ENST00000428863
gene symbol: MDM2
hgvsc: ENST00000428863.2:c.560A>T
hgvsp: ENSP00000410694.2:p.Gln187Leu
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000353611
ensembl transcript: ENST00000360430
gene symbol: MDM2
hgvsc: ENST00000360430.2:c.638A>T
hgvsp: ENSP00000353611.2:p.Gln213Leu
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444028
ensembl transcript: ENST00000536089
gene symbol: MDM2
hgvsc: ENST00000536089.1:c.*691A>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000377062
ensembl transcript: ENST00000393410
gene symbol: MDM2
hgvsc: ENST00000393410.1:c.479A>T
hgvsp: ENSP00000377062.1:p.Gln160Leu
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000445030
ensembl transcript: ENST00000540352
gene symbol: MDM2
hgvsc: ENST00000540352.1:c.*549A>T
variant of: http://identifiers.org/hgnc/6973

GenotypeDepth
all individuals: 58
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14795
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 291
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13178
bin: 3.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 2435
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 49
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 612
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28577
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 113
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 940
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 1026
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1317
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8275
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47910
bin: 6.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.991458114790949e-5
allele num: 66730
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

QD
type: SiteQuality
SIO_000300: 1.427e1

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 5.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

MQRankSum
type: SiteQuality
SIO_000300: 4.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.12e-1

DP
type: SiteQuality
SIO_000300: 1.677859e6

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000443450
ensembl transcript: ENST00000537182
gene symbol: MDM2
hgvsc: ENST00000537182.1:c.*522A>C
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000429021
ensembl transcript: ENST00000393417
gene symbol: MDM2
hgvsc: ENST00000393417.3:c.*1098A>C
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000410694
ensembl transcript: ENST00000428863
gene symbol: MDM2
hgvsc: ENST00000428863.2:c.561A>C
hgvsp: ENSP00000410694.2:p.Gln187His
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000445222
ensembl transcript: ENST00000546048
gene symbol: MDM2
hgvsc: ENST00000546048.1:c.*52-178A>C
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444597
ensembl transcript: ENST00000545204
gene symbol: MDM2
hgvsc: ENST00000545204.1:c.146A>C
hgvsp: ENSP00000444597.1:p.Lys49Thr
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000445030
ensembl transcript: ENST00000540352
gene symbol: MDM2
hgvsc: ENST00000540352.1:c.*550A>C
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000431110
ensembl transcript: ENST00000481186
gene symbol: MDM2
hgvsc: ENST00000481186.1:c.*696A>C
variant of: http://identifiers.org/hgnc/6973

GenotypeDepth
all individuals: 2436
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 59
bin: 6.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 20
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 12
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 13174
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 610
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 28576
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14795
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 9.75e1
variant carriers: 11

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47911
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8273
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1315
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1024
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 227
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 9.75e1
variant carriers: 18

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.222222222222222e-3
allele num: 900
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.247931902649562e-4
allele num: 66728
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

QD
type: SiteQuality
SIO_000300: 1.394e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.82e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

DP
type: SiteQuality
SIO_000300: 1.678623e6

VQSLOD
type: SiteQuality
SIO_000300: 5.83e0

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000443450
ensembl transcript: ENST00000537182
gene symbol: MDM2
hgvsc: ENST00000537182.1:c.*522A>G
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000441841
ensembl transcript: ENST00000544561
gene symbol: MDM2
hgvsc: ENST00000544561.1:c.184-165A>G
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000258149
ensembl transcript: ENST00000258149
gene symbol: MDM2
hgvsc: ENST00000258149.5:c.1059A>G
hgvsp: ENST00000258149.5:c.1059A>G(p.%3D)
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444566
ensembl transcript: ENST00000542502
gene symbol: MDM2
hgvsc: ENST00000542502.1:c.*620A>G
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000445030
ensembl transcript: ENST00000540352
gene symbol: MDM2
hgvsc: ENST00000540352.1:c.*550A>G
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000266624
ensembl transcript: ENST00000350057
gene symbol: MDM2
hgvsc: ENST00000350057.5:c.1149A>G
hgvsp: ENST00000350057.5:c.1149A>G(p.%3D)
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000429021
ensembl transcript: ENST00000393417
gene symbol: MDM2
hgvsc: ENST00000393417.3:c.*1098A>G
variant of: http://identifiers.org/hgnc/6973

GenotypeDepth
all individuals: 610
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 14795
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 28576
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 59
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2436
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 13174
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 12
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 20
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1315
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47911
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1024
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8273
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.678623e6

VQSLOD
type: SiteQuality
SIO_000300: 5.83e0

QD
type: SiteQuality
SIO_000300: 1.394e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.97e1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000443450
ensembl transcript: ENST00000537182
gene symbol: MDM2
hgvsc: ENST00000537182.1:c.*528T>C
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000445030
ensembl transcript: ENST00000540352
gene symbol: MDM2
hgvsc: ENST00000540352.1:c.*556T>C
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000430906
ensembl transcript: ENST00000478070
gene symbol: MDM2
hgvsc: ENST00000478070.1:c.*296T>C
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000310742
ensembl transcript: ENST00000311420
gene symbol: MDM2
hgvsc: ENST00000311420.9:c.*859T>C
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000441841
ensembl transcript: ENST00000544561
gene symbol: MDM2
hgvsc: ENST00000544561.1:c.184-159T>C
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444028
ensembl transcript: ENST00000536089
gene symbol: MDM2
hgvsc: ENST00000536089.1:c.*698T>C
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000445222
ensembl transcript: ENST00000546048
gene symbol: MDM2
hgvsc: ENST00000546048.1:c.*52-172T>C
variant of: http://identifiers.org/hgnc/6973

GenotypeDepth
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 14799
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 608
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2435
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28589
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13180
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 4.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 142
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1024
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1316
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 928
bin: 9.75e1
variant carriers: 4

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

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

GenotypeQuality
all individuals: 8277
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47938
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.994485073732166e-5
allele num: 66728
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: 8626
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.6775e6

MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 5.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

QD
type: SiteQuality
SIO_000300: 1.292e1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444566
ensembl transcript: ENST00000542502
gene symbol: MDM2
hgvsc: ENST00000542502.1:c.*628_*630dupTGA
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444028
ensembl transcript: ENST00000536089
gene symbol: MDM2
hgvsc: ENST00000536089.1:c.*700_*702dupTGA
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000430257
ensembl transcript: ENST00000517852
gene symbol: MDM2
hgvsc: ENST00000517852.1:c.157-8_157-6dupTGA
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000429021
ensembl transcript: ENST00000393417
gene symbol: MDM2
hgvsc: ENST00000393417.3:c.*1106_*1108dupTGA
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000445222
ensembl transcript: ENST00000546048
gene symbol: MDM2
hgvsc: ENST00000546048.1:c.*52-170_*52-168dupTGA
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000429692
ensembl transcript: ENST00000496959
gene symbol: MDM2
hgvsc: ENST00000496959.1:c.*470_*472dupTGA
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000445030
ensembl transcript: ENST00000540352
gene symbol: MDM2
hgvsc: ENST00000540352.1:c.*558_*560dupTGA
variant of: http://identifiers.org/hgnc/6973

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

GenotypeDepth
all individuals: 2435
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13181
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14798
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28590
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 609
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 111
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 227
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8276
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1316
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1024
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47939
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 925
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.34e-1

FS
type: SiteQuality
SIO_000300: 9.09e-1

MQ
type: SiteQuality
SIO_000300: 5.686e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.47e-1

QD
type: SiteQuality
SIO_000300: 1.949e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.24e0

DP
type: SiteQuality
SIO_000300: 1.677348e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000353611
ensembl transcript: ENST00000360430
gene symbol: MDM2
hgvsc: ENST00000360430.2:c.659A>G
hgvsp: ENSP00000353611.2:p.Glu220Gly
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000417281
ensembl transcript: ENST00000462284
gene symbol: MDM2
hgvsc: ENST00000462284.1:c.1262A>G
hgvsp: ENSP00000417281.1:p.Glu421Gly
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000258148
ensembl transcript: ENST00000258148
gene symbol: MDM2
hgvsc: ENST00000258148.7:c.1097A>G
hgvsp: ENSP00000258148.7:p.Glu366Gly
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000377062
ensembl transcript: ENST00000393410
gene symbol: MDM2
hgvsc: ENST00000393410.1:c.500A>G
hgvsp: ENSP00000377062.1:p.Glu167Gly
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000299252
ensembl transcript: ENST00000299252
gene symbol: MDM2
hgvsc: ENST00000299252.4:c.734A>G
hgvsp: ENSP00000299252.4:p.Glu245Gly
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000429021
ensembl transcript: ENST00000393417
gene symbol: MDM2
hgvsc: ENST00000393417.3:c.*1118A>G
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000266624
ensembl transcript: ENST00000350057
gene symbol: MDM2
hgvsc: ENST00000350057.5:c.1169A>G
hgvsp: ENSP00000266624.9:p.Glu390Gly
variant of: http://identifiers.org/hgnc/6973

GenotypeDepth
all individuals: 28601
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2434
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14797
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13181
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 608
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8280
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47942
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1024
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 924
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 227
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
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: 900
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.25e0

MQRankSum
type: SiteQuality
SIO_000300: 4.84e-1

DP
type: SiteQuality
SIO_000300: 1.677456e6

VQSLOD
type: SiteQuality
SIO_000300: -1.182e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.024e0

FS
type: SiteQuality
SIO_000300: 2.93e0

QD
type: SiteQuality
SIO_000300: 1.872e1

MQ
type: SiteQuality
SIO_000300: 5.985e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444597
ensembl transcript: ENST00000545204
gene symbol: MDM2
hgvsc: ENST00000545204.1:c.*29C>A
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000258148
ensembl transcript: ENST00000258148
gene symbol: MDM2
hgvsc: ENST00000258148.7:c.1116C>A
hgvsp: ENSP00000258148.7:p.Asp372Glu
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000266624
ensembl transcript: ENST00000350057
gene symbol: MDM2
hgvsc: ENST00000350057.5:c.1188C>A
hgvsp: ENSP00000266624.9:p.Asp396Glu
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000441841
ensembl transcript: ENST00000544561
gene symbol: MDM2
hgvsc: ENST00000544561.1:c.184-126C>A
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444566
ensembl transcript: ENST00000542502
gene symbol: MDM2
hgvsc: ENST00000542502.1:c.*659C>A
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000335096
ensembl transcript: ENST00000348801
gene symbol: MDM2
hgvsc: ENST00000348801.2:c.585C>A
hgvsp: ENSP00000335096.3:p.Asp195Glu
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000353611
ensembl transcript: ENST00000360430
gene symbol: MDM2
hgvsc: ENST00000360430.2:c.678C>A
hgvsp: ENSP00000353611.2:p.Asp226Glu
variant of: http://identifiers.org/hgnc/6973

GenotypeDepth
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13182
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28610
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14792
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2436
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 606
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 47959
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 923
bin: 9.75e1
variant carriers: 1

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

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

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

GenotypeQuality
all individuals: 1022
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8276
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1314
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.677514e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

QD
type: SiteQuality
SIO_000300: 1.105e1

FS
type: SiteQuality
SIO_000300: 1.962e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

VQSLOD
type: SiteQuality
SIO_000300: 1.4e-1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444566
ensembl transcript: ENST00000542502
gene symbol: MDM2
hgvsc: ENST00000542502.1:c.*659C>G
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000348637
ensembl transcript: ENST00000356290
gene symbol: MDM2
hgvsc: ENST00000356290.4:c.753C>G
hgvsp: ENSP00000348637.4:p.Asp251Glu
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000417281
ensembl transcript: ENST00000462284
gene symbol: MDM2
hgvsc: ENST00000462284.1:c.1281C>G
hgvsp: ENSP00000417281.1:p.Asp427Glu
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000410694
ensembl transcript: ENST00000428863
gene symbol: MDM2
hgvsc: ENST00000428863.2:c.600C>G
hgvsp: ENSP00000410694.2:p.Asp200Glu
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000431110
ensembl transcript: ENST00000481186
gene symbol: MDM2
hgvsc: ENST00000481186.1:c.*735C>G
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000441841
ensembl transcript: ENST00000544561
gene symbol: MDM2
hgvsc: ENST00000544561.1:c.184-126C>G
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000430906
ensembl transcript: ENST00000478070
gene symbol: MDM2
hgvsc: ENST00000478070.1:c.*329C>G
variant of: http://identifiers.org/hgnc/6973

GenotypeDepth
all individuals: 28610
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2436
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 606
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 14792
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13182
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1314
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47959
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1022
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 923
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8276
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 227
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.962e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: 1.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.3e-2

QD
type: SiteQuality
SIO_000300: 1.105e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

DP
type: SiteQuality
SIO_000300: 1.677514e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000258148
ensembl transcript: ENST00000258148
gene symbol: MDM2
hgvsc: ENST00000258148.7:c.1138A>C
hgvsp: ENSP00000258148.7:p.Ser380Arg
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000445030
ensembl transcript: ENST00000540352
gene symbol: MDM2
hgvsc: ENST00000540352.1:c.*611A>C
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000430906
ensembl transcript: ENST00000478070
gene symbol: MDM2
hgvsc: ENST00000478070.1:c.*351A>C
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000445222
ensembl transcript: ENST00000546048
gene symbol: MDM2
hgvsc: ENST00000546048.1:c.*52-117A>C
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444028
ensembl transcript: ENST00000536089
gene symbol: MDM2
hgvsc: ENST00000536089.1:c.*753A>C
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000429021
ensembl transcript: ENST00000393417
gene symbol: MDM2
hgvsc: ENST00000393417.3:c.*1159A>C
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000377062
ensembl transcript: ENST00000393410
gene symbol: MDM2
hgvsc: ENST00000393410.1:c.541A>C
hgvsp: ENSP00000377062.1:p.Ser181Arg
variant of: http://identifiers.org/hgnc/6973

GenotypeDepth
all individuals: 609
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2439
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 28609
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13181
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14786
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8275
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 481
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47955
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 174
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1023
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 921
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1312
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996883241428914e-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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.259e1

MQRankSum
type: SiteQuality
SIO_000300: -4.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.67772e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.03e-1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000429692
ensembl transcript: ENST00000496959
gene symbol: MDM2
hgvsc: ENST00000496959.1:c.*524G>A
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000441841
ensembl transcript: ENST00000544561
gene symbol: MDM2
hgvsc: ENST00000544561.1:c.184-103G>A
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444597
ensembl transcript: ENST00000545204
gene symbol: MDM2
hgvsc: ENST00000545204.1:c.*52G>A
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000353611
ensembl transcript: ENST00000360430
gene symbol: MDM2
hgvsc: ENST00000360430.2:c.701G>A
hgvsp: ENSP00000353611.2:p.Ser234Asn
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000299252
ensembl transcript: ENST00000299252
gene symbol: MDM2
hgvsc: ENST00000299252.4:c.776G>A
hgvsp: ENSP00000299252.4:p.Ser259Asn
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000445030
ensembl transcript: ENST00000540352
gene symbol: MDM2
hgvsc: ENST00000540352.1:c.*612G>A
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000410694
ensembl transcript: ENST00000428863
gene symbol: MDM2
hgvsc: ENST00000428863.2:c.623G>A
hgvsp: ENSP00000410694.2:p.Ser208Asn
variant of: http://identifiers.org/hgnc/6973

GenotypeDepth
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14787
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28610
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2440
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 608
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13181
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8275
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1023
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47958
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1312
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 174
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 918
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 481
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
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: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 4.216e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.468e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.45e-1

DP
type: SiteQuality
SIO_000300: 1.677463e6

QD
type: SiteQuality
SIO_000300: 1.149e1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000310742
ensembl transcript: ENST00000311420
gene symbol: MDM2
hgvsc: ENST00000311420.9:c.*920C>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000443450
ensembl transcript: ENST00000537182
gene symbol: MDM2
hgvsc: ENST00000537182.1:c.*589C>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000410694
ensembl transcript: ENST00000428863
gene symbol: MDM2
hgvsc: ENST00000428863.2:c.628C>T
hgvsp: ENSP00000410694.2:p.Pro210Ser
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000430906
ensembl transcript: ENST00000478070
gene symbol: MDM2
hgvsc: ENST00000478070.1:c.*357C>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000299252
ensembl transcript: ENST00000299252
gene symbol: MDM2
hgvsc: ENST00000299252.4:c.781C>T
hgvsp: ENSP00000299252.4:p.Pro261Ser
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444597
ensembl transcript: ENST00000545204
gene symbol: MDM2
hgvsc: ENST00000545204.1:c.*57C>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000429021
ensembl transcript: ENST00000393417
gene symbol: MDM2
hgvsc: ENST00000393417.3:c.*1165C>T
variant of: http://identifiers.org/hgnc/6973

GenotypeDepth
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13181
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2439
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 608
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28614
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 14782
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 917
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 1314
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1022
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47950
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8275
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

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

South Asian
type: Population
allele count: 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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.531e0

FS
type: SiteQuality
SIO_000300: 6.95e-1

DP
type: SiteQuality
SIO_000300: 1.677466e6

VQSLOD
type: SiteQuality
SIO_000300: -5.819e-1

QD
type: SiteQuality
SIO_000300: 7.84e0

MQRankSum
type: SiteQuality
SIO_000300: -7.86e-1

MQ
type: SiteQuality
SIO_000300: 5.926e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444028
ensembl transcript: ENST00000536089
gene symbol: MDM2
hgvsc: ENST00000536089.1:c.*762C>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000443450
ensembl transcript: ENST00000537182
gene symbol: MDM2
hgvsc: ENST00000537182.1:c.*592C>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000353611
ensembl transcript: ENST00000360430
gene symbol: MDM2
hgvsc: ENST00000360430.2:c.709C>T
hgvsp: ENSP00000353611.2:p.Leu237Phe
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000335096
ensembl transcript: ENST00000348801
gene symbol: MDM2
hgvsc: ENST00000348801.2:c.616C>T
hgvsp: ENSP00000335096.3:p.Leu206Phe
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000441841
ensembl transcript: ENST00000544561
gene symbol: MDM2
hgvsc: ENST00000544561.1:c.184-95C>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000445222
ensembl transcript: ENST00000546048
gene symbol: MDM2
hgvsc: ENST00000546048.1:c.*52-108C>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000310742
ensembl transcript: ENST00000311420
gene symbol: MDM2
hgvsc: ENST00000311420.9:c.*923C>T
variant of: http://identifiers.org/hgnc/6973

GenotypeDepth
all individuals: 9
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14781
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2439
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 606
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28614
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13185
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47956
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1022
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 8
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1312
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8274
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.096e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.822e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

VQSLOD
type: SiteQuality
SIO_000300: 1.84e-1

DP
type: SiteQuality
SIO_000300: 1.677394e6

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000430906
ensembl transcript: ENST00000478070
gene symbol: MDM2
hgvsc: ENST00000478070.1:c.*369A>G
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000443450
ensembl transcript: ENST00000537182
gene symbol: MDM2
hgvsc: ENST00000537182.1:c.*601A>G
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000417281
ensembl transcript: ENST00000462284
gene symbol: MDM2
hgvsc: ENST00000462284.1:c.1321A>G
hgvsp: ENSP00000417281.1:p.Ile441Val
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444028
ensembl transcript: ENST00000536089
gene symbol: MDM2
hgvsc: ENST00000536089.1:c.*771A>G
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444597
ensembl transcript: ENST00000545204
gene symbol: MDM2
hgvsc: ENST00000545204.1:c.*69A>G
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000441841
ensembl transcript: ENST00000544561
gene symbol: MDM2
hgvsc: ENST00000544561.1:c.184-86A>G
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000258148
ensembl transcript: ENST00000258148
gene symbol: MDM2
hgvsc: ENST00000258148.7:c.1156A>G
hgvsp: ENSP00000258148.7:p.Ile386Val
variant of: http://identifiers.org/hgnc/6973

GenotypeDepth
all individuals: 28623
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14773
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 605
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13184
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 58
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 29
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2436
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 291
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 917
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8276
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47953
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
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: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.25e0

QD
type: SiteQuality
SIO_000300: 1.2e1

VQSLOD
type: SiteQuality
SIO_000300: 9.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

DP
type: SiteQuality
SIO_000300: 1.677311e6

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444566
ensembl transcript: ENST00000542502
gene symbol: MDM2
hgvsc: ENST00000542502.1:c.*701T>G
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000429692
ensembl transcript: ENST00000496959
gene symbol: MDM2
hgvsc: ENST00000496959.1:c.*543T>G
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000410694
ensembl transcript: ENST00000428863
gene symbol: MDM2
hgvsc: ENST00000428863.2:c.642T>G
hgvsp: ENSP00000410694.2:p.Ile214Met
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000377064
ensembl transcript: ENST00000393412
gene symbol: MDM2
hgvsc: ENST00000393412.3:c.486T>G
hgvsp: ENSP00000377064.3:p.Ile162Met
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444597
ensembl transcript: ENST00000545204
gene symbol: MDM2
hgvsc: ENST00000545204.1:c.*71T>G
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000430257
ensembl transcript: ENST00000517852
gene symbol: MDM2
hgvsc: ENST00000517852.1:c.222T>G
hgvsp: ENSP00000430257.1:p.Ile74Met
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000310742
ensembl transcript: ENST00000311420
gene symbol: MDM2
hgvsc: ENST00000311420.9:c.*934T>G
variant of: http://identifiers.org/hgnc/6973

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

GenotypeDepth
all individuals: 13184
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2437
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 605
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28621
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14772
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8275
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1022
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47944
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.34e0

QD
type: SiteQuality
SIO_000300: 1.211e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e0

VQSLOD
type: SiteQuality
SIO_000300: -1.24e0

DP
type: SiteQuality
SIO_000300: 1.677368e6

MQRankSum
type: SiteQuality
SIO_000300: -2.14e-1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000445030
ensembl transcript: ENST00000540352
gene symbol: MDM2
hgvsc: ENST00000540352.1:c.*638delT
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000258149
ensembl transcript: ENST00000258149
gene symbol: MDM2
hgvsc: ENST00000258149.5:c.1147delT
hgvsp: ENSP00000258149.5:p.Cys383ValfsTer2
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000430906
ensembl transcript: ENST00000478070
gene symbol: MDM2
hgvsc: ENST00000478070.1:c.*378delT
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444597
ensembl transcript: ENST00000545204
gene symbol: MDM2
hgvsc: ENST00000545204.1:c.*78delT
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000348637
ensembl transcript: ENST00000356290
gene symbol: MDM2
hgvsc: ENST00000356290.4:c.802delT
hgvsp: ENSP00000348637.4:p.Cys268ValfsTer2
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000377062
ensembl transcript: ENST00000393410
gene symbol: MDM2
hgvsc: ENST00000393410.1:c.568delT
hgvsp: ENSP00000377062.1:p.Cys190ValfsTer2
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000443450
ensembl transcript: ENST00000537182
gene symbol: MDM2
hgvsc: ENST00000537182.1:c.*610delT
variant of: http://identifiers.org/hgnc/6973

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 13184
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 292
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14770
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28621
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2433
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 607
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1021
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8277
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47943
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1313
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.727e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

FS
type: SiteQuality
SIO_000300: 4.768e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.29e-1

MQ
type: SiteQuality
SIO_000300: 6.039e1

QD
type: SiteQuality
SIO_000300: 1.395e1

DP
type: SiteQuality
SIO_000300: 1.677407e6

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000348637
ensembl transcript: ENST00000356290
gene symbol: MDM2
hgvsc: ENST00000356290.4:c.806_807delTG
hgvsp: ENSP00000348637.4:p.Val269AspfsTer7
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444597
ensembl transcript: ENST00000545204
gene symbol: MDM2
hgvsc: ENST00000545204.1:c.*82_*83delTG
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000429692
ensembl transcript: ENST00000496959
gene symbol: MDM2
hgvsc: ENST00000496959.1:c.*554_*555delTG
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000266624
ensembl transcript: ENST00000350057
gene symbol: MDM2
hgvsc: ENST00000350057.5:c.1241_1242delTG
hgvsp: ENSP00000266624.9:p.Val414AspfsTer7
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444028
ensembl transcript: ENST00000536089
gene symbol: MDM2
hgvsc: ENST00000536089.1:c.*784_*785delTG
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000445222
ensembl transcript: ENST00000546048
gene symbol: MDM2
hgvsc: ENST00000546048.1:c.*52-86_*52-85delTG
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000445030
ensembl transcript: ENST00000540352
gene symbol: MDM2
hgvsc: ENST00000540352.1:c.*642_*643delTG
variant of: http://identifiers.org/hgnc/6973

GenotypeDepth
all individuals: 13186
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 47
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14774
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2433
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 605
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28617
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 29
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47941
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8277
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1311
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 9.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.191e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.677212e6

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

QD
type: SiteQuality
SIO_000300: 1.241e1

FS
type: SiteQuality
SIO_000300: 5.658e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000430906
ensembl transcript: ENST00000478070
gene symbol: MDM2
hgvsc: ENST00000478070.1:c.*379G>A
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000299252
ensembl transcript: ENST00000299252
gene symbol: MDM2
hgvsc: ENST00000299252.4:c.803G>A
hgvsp: ENSP00000299252.4:p.Cys268Tyr
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000310742
ensembl transcript: ENST00000311420
gene symbol: MDM2
hgvsc: ENST00000311420.9:c.*942G>A
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000445222
ensembl transcript: ENST00000546048
gene symbol: MDM2
hgvsc: ENST00000546048.1:c.*52-89G>A
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000410694
ensembl transcript: ENST00000428863
gene symbol: MDM2
hgvsc: ENST00000428863.2:c.650G>A
hgvsp: ENSP00000410694.2:p.Cys217Tyr
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000429692
ensembl transcript: ENST00000496959
gene symbol: MDM2
hgvsc: ENST00000496959.1:c.*551G>A
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444566
ensembl transcript: ENST00000542502
gene symbol: MDM2
hgvsc: ENST00000542502.1:c.*709G>A
variant of: http://identifiers.org/hgnc/6973

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

GenotypeDepth
all individuals: 605
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2432
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28617
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14775
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13186
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 8277
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1311
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 915
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47944
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 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: 8626
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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.141e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 3.468e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 1.19e1

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.22e-1

DP
type: SiteQuality
SIO_000300: 1.677267e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.172e0

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000310742
ensembl transcript: ENST00000311420
gene symbol: MDM2
hgvsc: ENST00000311420.9:c.*976C>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444566
ensembl transcript: ENST00000542502
gene symbol: MDM2
hgvsc: ENST00000542502.1:c.*743C>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000431110
ensembl transcript: ENST00000481186
gene symbol: MDM2
hgvsc: ENST00000481186.1:c.*819C>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000441841
ensembl transcript: ENST00000544561
gene symbol: MDM2
hgvsc: ENST00000544561.1:c.184-42C>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000443450
ensembl transcript: ENST00000537182
gene symbol: MDM2
hgvsc: ENST00000537182.1:c.*645C>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000258148
ensembl transcript: ENST00000258148
gene symbol: MDM2
hgvsc: ENST00000258148.7:c.1200C>T
hgvsp: ENST00000258148.7:c.1200C>T(p.%3D)
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444597
ensembl transcript: ENST00000545204
gene symbol: MDM2
hgvsc: ENST00000545204.1:c.*113C>T
variant of: http://identifiers.org/hgnc/6973

GenotypeDepth
all individuals: 9
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14758
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13189
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 599
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28628
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2434
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 47952
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1310
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 224
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1017
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8270
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 9.75e1
variant carriers: 1

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.184e0

DP
type: SiteQuality
SIO_000300: 1.677285e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.86e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.082e0

QD
type: SiteQuality
SIO_000300: 1.205e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000258148
ensembl transcript: ENST00000258148
gene symbol: MDM2
hgvsc: ENST00000258148.7:c.1203T>C
hgvsp: ENST00000258148.7:c.1203T>C(p.%3D)
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444028
ensembl transcript: ENST00000536089
gene symbol: MDM2
hgvsc: ENST00000536089.1:c.*818T>C
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444566
ensembl transcript: ENST00000542502
gene symbol: MDM2
hgvsc: ENST00000542502.1:c.*746T>C
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000445030
ensembl transcript: ENST00000540352
gene symbol: MDM2
hgvsc: ENST00000540352.1:c.*676T>C
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000443450
ensembl transcript: ENST00000537182
gene symbol: MDM2
hgvsc: ENST00000537182.1:c.*648T>C
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000377062
ensembl transcript: ENST00000393410
gene symbol: MDM2
hgvsc: ENST00000393410.1:c.606T>C
hgvsp: ENST00000393410.1:c.606T>C(p.%3D)
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000417281
ensembl transcript: ENST00000462284
gene symbol: MDM2
hgvsc: ENST00000462284.1:c.1368T>C
hgvsp: ENST00000462284.1:c.1368T>C(p.%3D)
variant of: http://identifiers.org/hgnc/6973

GenotypeDepth
all individuals: 28633
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14761
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13187
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 598
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2431
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 224
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 478
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 47966
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8272
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
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: 8626
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-2

QD
type: SiteQuality
SIO_000300: 1.551e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.099e0

DP
type: SiteQuality
SIO_000300: 1.677116e6

VQSLOD
type: SiteQuality
SIO_000300: 1.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000431110
ensembl transcript: ENST00000481186
gene symbol: MDM2
hgvsc: ENST00000481186.1:c.*849G>C
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444566
ensembl transcript: ENST00000542502
gene symbol: MDM2
hgvsc: ENST00000542502.1:c.*773G>C
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000410694
ensembl transcript: ENST00000428863
gene symbol: MDM2
hgvsc: ENST00000428863.2:c.714G>C
hgvsp: ENSP00000410694.2:p.Met238Ile
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000266624
ensembl transcript: ENST00000350057
gene symbol: MDM2
hgvsc: ENST00000350057.5:c.1302G>C
hgvsp: ENSP00000266624.9:p.Met434Ile
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444597
ensembl transcript: ENST00000545204
gene symbol: MDM2
hgvsc: ENST00000545204.1:c.*143G>C
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000441841
ensembl transcript: ENST00000544561
gene symbol: MDM2
hgvsc: ENST00000544561.1:c.184-12G>C
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000445030
ensembl transcript: ENST00000540352
gene symbol: MDM2
hgvsc: ENST00000540352.1:c.*703G>C
variant of: http://identifiers.org/hgnc/6973

GenotypeDepth
all individuals: 600
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 14768
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13182
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2427
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28647
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 913
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 169
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8257
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1305
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47999
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1014
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -6.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.67e0

QD
type: SiteQuality
SIO_000300: 1.592e1

DP
type: SiteQuality
SIO_000300: 1.677079e6

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.63e-1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000430906
ensembl transcript: ENST00000478070
gene symbol: MDM2
hgvsc: ENST00000478070.1:c.*449C>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000443450
ensembl transcript: ENST00000537182
gene symbol: MDM2
hgvsc: ENST00000537182.1:c.*681C>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444028
ensembl transcript: ENST00000536089
gene symbol: MDM2
hgvsc: ENST00000536089.1:c.*851C>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000429692
ensembl transcript: ENST00000496959
gene symbol: MDM2
hgvsc: ENST00000496959.1:c.*621C>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000348637
ensembl transcript: ENST00000356290
gene symbol: MDM2
hgvsc: ENST00000356290.4:c.873C>T
hgvsp: ENST00000356290.4:c.873C>T(p.%3D)
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000431110
ensembl transcript: ENST00000481186
gene symbol: MDM2
hgvsc: ENST00000481186.1:c.*855C>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000445030
ensembl transcript: ENST00000540352
gene symbol: MDM2
hgvsc: ENST00000540352.1:c.*709C>T
variant of: http://identifiers.org/hgnc/6973

GenotypeDepth
all individuals: 601
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13187
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 14764
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2422
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28646
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 58
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 29
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48003
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 913
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 8250
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1301
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.676971e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: -3.97e-1

FS
type: SiteQuality
SIO_000300: 2.249e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.653e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.320000000000001e-1

QD
type: SiteQuality
SIO_000300: 8.800000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.721e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.351e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000410694
ensembl transcript: ENST00000428863
gene symbol: MDM2
hgvsc: ENST00000428863.2:c.724A>T
hgvsp: ENSP00000410694.2:p.Thr242Ser
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000353611
ensembl transcript: ENST00000360430
gene symbol: MDM2
hgvsc: ENST00000360430.2:c.802A>T
hgvsp: ENSP00000353611.2:p.Thr268Ser
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000429692
ensembl transcript: ENST00000496959
gene symbol: MDM2
hgvsc: ENST00000496959.1:c.*625A>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000258148
ensembl transcript: ENST00000258148
gene symbol: MDM2
hgvsc: ENST00000258148.7:c.1240A>T
hgvsp: ENSP00000258148.7:p.Thr414Ser
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444028
ensembl transcript: ENST00000536089
gene symbol: MDM2
hgvsc: ENST00000536089.1:c.*855A>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000429021
ensembl transcript: ENST00000393417
gene symbol: MDM2
hgvsc: ENST00000393417.3:c.*1261A>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000258149
ensembl transcript: ENST00000258149
gene symbol: MDM2
hgvsc: ENST00000258149.5:c.1222A>T
hgvsp: ENSP00000258149.5:p.Thr408Ser
variant of: http://identifiers.org/hgnc/6973

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 14767
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2421
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28647
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 598
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13184
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 47999
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 912
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 476
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 225
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8253
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.592016588906169e-4
allele num: 11574
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.67702e6

VQSLOD
type: SiteQuality
SIO_000300: -3.229e0

QD
type: SiteQuality
SIO_000300: 1.318e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 2.1159e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000410694
ensembl transcript: ENST00000428863
gene symbol: MDM2
hgvsc: ENST00000428863.2:c.766G>T
hgvsp: ENSP00000410694.2:p.Val256Leu
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000443450
ensembl transcript: ENST00000537182
gene symbol: MDM2
hgvsc: ENST00000537182.1:c.*727G>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000445030
ensembl transcript: ENST00000540352
gene symbol: MDM2
hgvsc: ENST00000540352.1:c.*755G>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444566
ensembl transcript: ENST00000542502
gene symbol: MDM2
hgvsc: ENST00000542502.1:c.*825G>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000417281
ensembl transcript: ENST00000462284
gene symbol: MDM2
hgvsc: ENST00000462284.1:c.1447G>T
hgvsp: ENSP00000417281.1:p.Val483Leu
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444597
ensembl transcript: ENST00000545204
gene symbol: MDM2
hgvsc: ENST00000545204.1:c.*195G>T
variant of: http://identifiers.org/hgnc/6973

GenotypeDepth
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2416
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14773
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 589
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 288
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13146
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28622
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8216
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 25
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47994
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.021033285685113e-4
allele num: 9794
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: 898
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.1e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

FS
type: SiteQuality
SIO_000300: 2.547e0

DP
type: SiteQuality
SIO_000300: 1.675249e6

VQSLOD
type: SiteQuality
SIO_000300: -2.119e0

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000445222
ensembl transcript: ENST00000546048
gene symbol: MDM2
hgvsc: ENST00000546048.1:c.*81A>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000258148
ensembl transcript: ENST00000258148
gene symbol: MDM2
hgvsc: ENST00000258148.7:c.1284A>T
hgvsp: ENST00000258148.7:c.1284A>T(p.%3D)
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000310742
ensembl transcript: ENST00000311420
gene symbol: MDM2
hgvsc: ENST00000311420.9:c.*1060A>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000444566
ensembl transcript: ENST00000542502
gene symbol: MDM2
hgvsc: ENST00000542502.1:c.*827A>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000377064
ensembl transcript: ENST00000393412
gene symbol: MDM2
hgvsc: ENST00000393412.3:c.612A>T
hgvsp: ENST00000393412.3:c.612A>T(p.%3D)
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000410694
ensembl transcript: ENST00000428863
gene symbol: MDM2
hgvsc: ENST00000428863.2:c.768A>T
hgvsp: ENST00000428863.2:c.768A>T(p.%3D)
variant of: http://identifiers.org/hgnc/6973

GenotypeDepth
all individuals: 288
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 9
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14776
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28616
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 589
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2412
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13142
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8214
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 224
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 83
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47995
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
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: 898
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: 1.021033285685113e-4
allele num: 9794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

FS
type: SiteQuality
SIO_000300: 2.522e0

VQSLOD
type: SiteQuality
SIO_000300: -2.017e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.95e-1

DP
type: SiteQuality
SIO_000300: 1.674962e6

QD
type: SiteQuality
SIO_000300: 2.119e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000266624
ensembl transcript: ENST00000350057
gene symbol: MDM2
hgvsc: ENST00000350057.5:c.1398C>T
hgvsp: ENST00000350057.5:c.1398C>T(p.%3D)
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000431110
ensembl transcript: ENST00000481186
gene symbol: MDM2
hgvsc: ENST00000481186.1:c.*945C>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000410694
ensembl transcript: ENST00000428863
gene symbol: MDM2
hgvsc: ENST00000428863.2:c.810C>T
hgvsp: ENST00000428863.2:c.810C>T(p.%3D)
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000445222
ensembl transcript: ENST00000546048
gene symbol: MDM2
hgvsc: ENST00000546048.1:c.*123C>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000429692
ensembl transcript: ENST00000496959
gene symbol: MDM2
hgvsc: ENST00000496959.1:c.*711C>T
variant of: http://identifiers.org/hgnc/6973

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000135679
ensembl protein: ENSP00000348637
ensembl transcript: ENST00000356290
gene symbol: MDM2
hgvsc: ENST00000356290.4:c.963C>T
hgvsp: ENST00000356290.4:c.963C>T(p.%3D)
variant of: http://identifiers.org/hgnc/6973

GenotypeDepth
all individuals: 286
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1556
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2337
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 572
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 19
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12591
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13103
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26971
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2020
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 479
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 44633
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3466
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7549
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 208
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1068
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 380
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9486
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.227425582264292e-5
allele num: 16058
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.61507e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.49e-1

QD
type: SiteQuality
SIO_000300: 1.798e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: -3.142e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.24e-1

FS
type: SiteQuality
SIO_000300: 2.028e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.673e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

GenotypeQuality
all individuals: 190
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 39840
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 425
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 77
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 850
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 8183
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 92
bin: 8.75e1
variant carriers: 1

African
type: Population
allele count: 24
allele frequency: 2.653693056169837e-3
allele num: 9044
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 32
allele frequency: 4.993757802746567e-3
allele num: 6408
num of homozygotes: 0

Latino
type: Population
allele count: 70
allele frequency: 6.379876048122493e-3
allele num: 10972
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.48323814253787e-4
allele num: 8054
num of homozygotes: 0

South Asian
type: Population
allele count: 379
allele frequency: 2.462638076673164e-2
allele num: 15390
num of homozygotes: 8

European (Non-Finnish)
type: Population
allele count: 885
allele frequency: 1.424478496008241e-2
allele num: 62128
num of homozygotes: 2

Other
type: Population
allele count: 15
allele frequency: 1.736111111111111e-2
allele num: 864
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.65e0

DP
type: SiteQuality
SIO_000300: 1.535495e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e-1

QD
type: SiteQuality
SIO_000300: 1.325e1

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.997e0

FS
type: SiteQuality
SIO_000300: 1.843e0

GenotypeQuality
all individuals: 174
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 386
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9082
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.788161993769471e-5
allele num: 12840
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50932
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5532
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.254e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

MQRankSum
type: SiteQuality
SIO_000300: -5.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.017e0

DP
type: SiteQuality
SIO_000300: 1.133862e6

QD
type: SiteQuality
SIO_000300: 2.213e1

GenotypeQuality
all individuals: 240
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 265
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1826
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42766
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10930
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.979414093428345e-4
allele num: 5052
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4774
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: -2.223e0

DP
type: SiteQuality
SIO_000300: 9.07171e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.1e0

GenotypeQuality
all individuals: 534
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33938
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 262
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4772
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.022974607013301e-4
allele num: 6616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10876
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

QD
type: SiteQuality
SIO_000300: 1.823e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

DP
type: SiteQuality
SIO_000300: 9.0438e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

MQ
type: SiteQuality
SIO_000300: 5.414e1

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

GenotypeQuality
all individuals: 159
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2023
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36850
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3500
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.03334688897926e-4
allele num: 4918
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4980
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.455425017277125e-5
allele num: 28940
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0495e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.99e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.63e-2

DP
type: SiteQuality
SIO_000300: 6.48467e5

ClippingRankSum
type: SiteQuality
SIO_000300: 8.34e-1

QD
type: SiteQuality
SIO_000300: 1.565e1

GenotypeQuality
all individuals: 176
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1583
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 3.581661891117478e-4
allele num: 2792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3268
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7244
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26556
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.8e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

QD
type: SiteQuality
SIO_000300: 1.3e1

DP
type: SiteQuality
SIO_000300: 6.15213e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.659e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.26e-2

GenotypeQuality
all individuals: 147
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3115
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 175
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.047599773334413e-5
allele num: 24706
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6820
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2614
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3062
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.453e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.11e-2

QD
type: SiteQuality
SIO_000300: 1.011e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -7.835e-1

DP
type: SiteQuality
SIO_000300: 5.90087e5

GenotypeQuality
all individuals: 1947
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 155
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GenotypeQuality
all individuals: 78
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4370
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 4.784688995215311e-4
allele num: 4180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24706
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6820
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3062
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2614
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.11e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.453e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.011e1

VQSLOD
type: SiteQuality
SIO_000300: -7.835e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.90087e5

GenotypeQuality
all individuals: 163
bin: 7.75e1
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
all individuals: 114
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1980
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2484
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.064316823660488e-5
allele num: 19746
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3140
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5458
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.46e-2

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

FS
type: SiteQuality
SIO_000300: 8.339e0

DP
type: SiteQuality
SIO_000300: 5.25399e5

VQSLOD
type: SiteQuality
SIO_000300: -5.332e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.63e0

QD
type: SiteQuality
SIO_000300: 1.234e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 41
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4966
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17710
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2678
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1734
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

QD
type: SiteQuality
SIO_000300: 4.61e0

MQ
type: SiteQuality
SIO_000300: 3.912e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.77e-2

DP
type: SiteQuality
SIO_000300: 4.9547e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-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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variant carriers: 0

GenotypeQuality
all individuals: 114
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variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.039279177812192e-5
allele num: 14206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1314
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1818
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3974
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1764
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.49451e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.49e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.333e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 5.841e0

QD
type: SiteQuality
SIO_000300: 1.794e1

GenotypeQuality
all individuals: 1377
bin: 9.75e1
variant carriers: 838

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 31

GenotypeQuality
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bin: 8.75e1
variant carriers: 77

GenotypeQuality
all individuals: 132
bin: 7.25e1
variant carriers: 22

GenotypeQuality
all individuals: 188
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variant carriers: 93

GenotypeQuality
all individuals: 108
bin: 4.75e1
variant carriers: 23

GenotypeQuality
all individuals: 144
bin: 7.75e1
variant carriers: 20

African
type: Population
allele count: 908
allele frequency: 3.594615993665875e-1
allele num: 2526
num of homozygotes: 140

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 1.608061749571184e-3
allele num: 9328
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.379944802207912e-3
allele num: 2174
num of homozygotes: 0

Latino
type: Population
allele count: 30
allele frequency: 3.456221198156682e-2
allele num: 868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 934
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 2.941176470588235e-2
allele num: 170
num of homozygotes: 1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.754e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.56e-2

DP
type: SiteQuality
SIO_000300: 3.71683e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1854
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.934812760055479e-4
allele num: 1442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7290
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.48e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.51e0

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

DP
type: SiteQuality
SIO_000300: 3.32572e5

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.663003663003663e-4
allele num: 2730
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 92
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.494e0

MQRankSum
type: SiteQuality
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DP
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BaseQRankSum
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QD
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SIO_000300: 1.427e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
SIO_000300: -9.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.79e-2

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 134
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7504
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.663003663003663e-4
allele num: 2730
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.986e1

DP
type: SiteQuality
SIO_000300: 2.55628e5

FS
type: SiteQuality
SIO_000300: 9.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.77e-2

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.159e1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 0
allele frequency: 0.0e0
allele num: 2732
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African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 2.664535038635758e-4
allele num: 7506
num of homozygotes: 1

VQSLOD
type: SiteQuality
SIO_000300: -2.93e-2

FS
type: SiteQuality
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InbreedingCoeff
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DP
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SIO_000300: 2.55656e5

QD
type: SiteQuality
SIO_000300: 3.341e1

MQ
type: SiteQuality
SIO_000300: 5.95e1

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: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 7.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2732
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: 134
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.332267519317879e-4
allele num: 7506
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

FS
type: SiteQuality
SIO_000300: 1.99e0

QD
type: SiteQuality
SIO_000300: 4.75e0

MQ
type: SiteQuality
SIO_000300: 5.852e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.829e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.713e0

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.55838e5

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39698
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1219
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11112
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539361472861057e-5
allele num: 64962
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.692e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.531e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.164e0

QD
type: SiteQuality
SIO_000300: 4.57e0

DP
type: SiteQuality
SIO_000300: 3.042464e6

MQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

FS
type: SiteQuality
SIO_000300: 4.771e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.777e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2526
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.204819277108434e-3
allele num: 830
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.07919694543663e-5
allele num: 64952
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 8.999280057595392e-5
allele num: 11112
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.158e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: -9.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.406e0

DP
type: SiteQuality
SIO_000300: 3.042528e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.127e1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64960
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 9.022013713460844e-5
allele num: 11084
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 3.321e0

MQRankSum
type: SiteQuality
SIO_000300: 1.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 3.044012e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.16e0

QD
type: SiteQuality
SIO_000300: 1.309e1

MQ
type: SiteQuality
SIO_000300: 5.773e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.296e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1994
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53907716932927e-5
allele num: 64974
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
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: 8582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.389e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.494e0

MQRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 1.709e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.044387e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.28e-1

GenotypeQuality
all individuals: 1434
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65002
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.697164724299878e-5
allele num: 11498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11122
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.324e1

FS
type: SiteQuality
SIO_000300: 7.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

DP
type: SiteQuality
SIO_000300: 3.044659e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.02e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2251
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2006
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2024
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variant carriers: 0

GenotypeQuality
all individuals: 1438
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.988120195667365e-4
allele num: 8586
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65030
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
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: 830
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.245e1

FS
type: SiteQuality
SIO_000300: 1.868e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

DP
type: SiteQuality
SIO_000300: 3.044928e6

MQ
type: SiteQuality
SIO_000300: 5.915e1

VQSLOD
type: SiteQuality
SIO_000300: 7.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.89e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537089981247502e-5
allele num: 65058
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.046378e6

FS
type: SiteQuality
SIO_000300: 3.153e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.07e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.701e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11230
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537657225451303e-5
allele num: 65034
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: 1.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.295e0

DP
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.37e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537137235612395e-5
allele num: 65056
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 834
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.63e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.227e1

DP
type: SiteQuality
SIO_000300: 3.047553e6

FS
type: SiteQuality
SIO_000300: 1.013e0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 7.66e-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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bin: 7.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11686
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.068614213821039e-5
allele num: 65176
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: 2.7e0

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.053443e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.04e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.56e-1

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 381
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variant carriers: 0

GenotypeQuality
all individuals: 2042
bin: 6.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533836431682925e-5
allele num: 65196
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11732
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

QD
type: SiteQuality
SIO_000300: 1.35e1

MQ
type: SiteQuality
SIO_000300: 5.984e1

DP
type: SiteQuality
SIO_000300: 3.054313e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2250
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2066
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39680
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65370
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.023e0

VQSLOD
type: SiteQuality
SIO_000300: 9.56e-1

DP
type: SiteQuality
SIO_000300: 3.063009e6

FS
type: SiteQuality
SIO_000300: 5.151e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.7e-1

QD
type: SiteQuality
SIO_000300: 1.13e1

GenotypeQuality
all individuals: 300
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39680
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4572
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12148
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65370
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.07e-1

FS
type: SiteQuality
SIO_000300: 5.151e0

VQSLOD
type: SiteQuality
SIO_000300: 9.56e-1

DP
type: SiteQuality
SIO_000300: 3.063009e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.023e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

QD
type: SiteQuality
SIO_000300: 1.13e1

GenotypeQuality
all individuals: 5039
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1442
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39681
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526391305675123e-5
allele num: 65514
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -9.524e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
type: SiteQuality
SIO_000300: 3.069979e6

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.87e-1

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2252
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2038
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6399
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2516
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.192174913693901e-5
allele num: 13904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65932
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.94e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.421e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-1

QD
type: SiteQuality
SIO_000300: 9.050000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 2.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-1

DP
type: SiteQuality
SIO_000300: 3.08915e6

GenotypeQuality
all individuals: 2326
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2256
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2064
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.095330976472023e-5
allele num: 16406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 10382
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

FS
type: SiteQuality
SIO_000300: 6.68e-1

DP
type: SiteQuality
SIO_000300: 3.124436e6

MQRankSum
type: SiteQuality
SIO_000300: -2.81e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

QD
type: SiteQuality
SIO_000300: 1.406e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.39e-1

GenotypeQuality
all individuals: 2326
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2517
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2256
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1447
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500555205426008e-5
allele num: 66642
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: 906
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.39e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

QD
type: SiteQuality
SIO_000300: 1.406e1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

DP
type: SiteQuality
SIO_000300: 3.124436e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

FS
type: SiteQuality
SIO_000300: 6.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.18e-1

GenotypeQuality
all individuals: 39681
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2262
bin: 8.25e1
variant carriers: 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: 10384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000300030003e-5
allele num: 66660
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.48e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.39e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

QD
type: SiteQuality
SIO_000300: 1.533e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.125839e6

GenotypeQuality
all individuals: 2342
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1286
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1446
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2515
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.425418384671356e-4
allele num: 16492
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
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: 11570
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: 9.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.349e1

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.15e-1

FS
type: SiteQuality
SIO_000300: 1.743e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.89e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 3.126693e6