12-57677712-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57677712
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57677712
    reference: chr 12
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.1024C>A
  hgvsp: ENSP00000385169.2:p.Pro342Thr
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.319C>A
  hgvsp: ENSP00000394676.2:p.Pro107Thr
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.420C>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.1066C>A
  hgvsp: ENSP00000385839.1:p.Pro356Thr
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.1024C>A
  hgvsp: ENSP00000317903.6:p.Pro342Thr
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.1024C>A
  hgvsp: ENSP00000351784.2:p.Pro342Thr
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.860C>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.205C>A
  hgvsp: ENSP00000409146.2:p.Pro69Thr
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000408536
  ensembl transcript: ENST00000441731
  gene symbol: R3HDM2
  hgvsc: ENST00000441731.2:c.7C>A
  hgvsp: ENSP00000408536.2:p.Pro3Thr
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.634C>A
  hgvsp: ENSP00000450411.1:p.Pro212Thr
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.*116C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro342Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

12-57677717-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57677717
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57677717
    reference: chr 12
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.1019T>C
  hgvsp: ENSP00000385169.2:p.Met340Thr
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.1019T>C
  hgvsp: ENSP00000317903.6:p.Met340Thr
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.200T>C
  hgvsp: ENSP00000409146.2:p.Met67Thr
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.855T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.415T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.314T>C
  hgvsp: ENSP00000394676.2:p.Met105Thr
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.*111T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.629T>C
  hgvsp: ENSP00000450411.1:p.Met210Thr
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000408536
  ensembl transcript: ENST00000441731
  gene symbol: R3HDM2
  hgvsc: ENST00000441731.2:c.2T>C
  hgvsp: ENSP00000408536.2:p.Met1?
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.1061T>C
  hgvsp: ENSP00000385839.1:p.Met354Thr
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.1019T>C
  hgvsp: ENSP00000351784.2:p.Met340Thr
  variant of: http://identifiers.org/hgnc/29167
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8559
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-57677723-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57677723
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57677723
    reference: chr 12
allele count: 3
allele frequency: 2.471821237888076e-5
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.194G>A
  hgvsp: ENSP00000409146.2:p.Arg65Gln
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.1013G>A
  hgvsp: ENSP00000351784.2:p.Arg338Gln
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.*105G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.1055G>A
  hgvsp: ENSP00000385839.1:p.Arg352Gln
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.1013G>A
  hgvsp: ENSP00000385169.2:p.Arg338Gln
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.308G>A
  hgvsp: ENSP00000394676.2:p.Arg103Gln
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000408536
  ensembl transcript: ENST00000441731
  gene symbol: R3HDM2
  hgvsc: ENST00000441731.2:c.-5G>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.623G>A
  hgvsp: ENSP00000450411.1:p.Arg208Gln
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.1013G>A
  hgvsp: ENSP00000317903.6:p.Arg338Gln
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.849G>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.409G>A
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg338Gln
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

12-57677724-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57677724
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57677724
    reference: chr 12
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.1054C>T
  hgvsp: ENSP00000385839.1:p.Arg352Trp
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.193C>T
  hgvsp: ENSP00000409146.2:p.Arg65Trp
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.1012C>T
  hgvsp: ENSP00000385169.2:p.Arg338Trp
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.408C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.1012C>T
  hgvsp: ENSP00000317903.6:p.Arg338Trp
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.1012C>T
  hgvsp: ENSP00000351784.2:p.Arg338Trp
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000408536
  ensembl transcript: ENST00000441731
  gene symbol: R3HDM2
  hgvsc: ENST00000441731.2:c.-6C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.622C>T
  hgvsp: ENSP00000450411.1:p.Arg208Trp
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.848C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.*104C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.307C>T
  hgvsp: ENSP00000394676.2:p.Arg103Trp
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg338Trp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD

12-57677740-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57677740
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57677740
    reference: chr 12
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.996C>T
  hgvsp: ENST00000358907.2:c.996C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.606C>T
  hgvsp: ENST00000547262.1:c.606C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.1038C>T
  hgvsp: ENST00000402412.1:c.1038C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.996C>T
  hgvsp: ENST00000403821.2:c.996C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.832C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.291C>T
  hgvsp: ENST00000429355.2:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000408536
  ensembl transcript: ENST00000441731
  gene symbol: R3HDM2
  hgvsc: ENST00000441731.2:c.-22C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.177C>T
  hgvsp: ENST00000413953.2:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.996C>T
  hgvsp: ENST00000347140.3:c.996C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.392C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.*88C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp332Asp
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

12-57677741-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57677741
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57677741
    reference: chr 12
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.995A>G
  hgvsp: ENSP00000317903.6:p.Asp332Gly
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.1037A>G
  hgvsp: ENSP00000385839.1:p.Asp346Gly
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.290A>G
  hgvsp: ENSP00000394676.2:p.Asp97Gly
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.391A>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.176A>G
  hgvsp: ENSP00000409146.2:p.Asp59Gly
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.*87A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.995A>G
  hgvsp: ENSP00000385169.2:p.Asp332Gly
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.995A>G
  hgvsp: ENSP00000351784.2:p.Asp332Gly
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.605A>G
  hgvsp: ENSP00000450411.1:p.Asp202Gly
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.831A>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000408536
  ensembl transcript: ENST00000441731
  gene symbol: R3HDM2
  hgvsc: ENST00000441731.2:c.-23A>G
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asp332Gly
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-57677743-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57677743
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57677743
    reference: chr 12
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.993A>G
  hgvsp: ENST00000358907.2:c.993A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.174A>G
  hgvsp: ENST00000413953.2:c.174A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.389A>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.1035A>G
  hgvsp: ENST00000402412.1:c.1035A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000408536
  ensembl transcript: ENST00000441731
  gene symbol: R3HDM2
  hgvsc: ENST00000441731.2:c.-25A>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.603A>G
  hgvsp: ENST00000547262.1:c.603A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.*85A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.288A>G
  hgvsp: ENST00000429355.2:c.288A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.993A>G
  hgvsp: ENST00000347140.3:c.993A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.829A>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.993A>G
  hgvsp: ENST00000403821.2:c.993A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr331Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

12-57677750-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57677750
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57677750
    reference: chr 12
allele count: 1
allele frequency: 8.260912665631299e-6
allele num: 121052
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.281G>A
  hgvsp: ENSP00000394676.2:p.Ser94Asn
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.*78G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.382G>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.822G>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.986G>A
  hgvsp: ENSP00000317903.6:p.Ser329Asn
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.596G>A
  hgvsp: ENSP00000450411.1:p.Ser199Asn
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.986G>A
  hgvsp: ENSP00000385169.2:p.Ser329Asn
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.167G>A
  hgvsp: ENSP00000409146.2:p.Ser56Asn
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.986G>A
  hgvsp: ENSP00000351784.2:p.Ser329Asn
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.1028G>A
  hgvsp: ENSP00000385839.1:p.Ser343Asn
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000408536
  ensembl transcript: ENST00000441731
  gene symbol: R3HDM2
  hgvsc: ENST00000441731.2:c.-32G>A
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser329Asn
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

12-57677759-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57677759
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57677759
    reference: chr 12
allele count: 1
allele frequency: 8.29985724245543e-6
allele num: 120484
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.272G>A
  hgvsp: ENSP00000394676.2:p.Arg91His
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.587G>A
  hgvsp: ENSP00000450411.1:p.Arg196His
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.158G>A
  hgvsp: ENSP00000409146.2:p.Arg53His
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.813G>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.373G>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000408536
  ensembl transcript: ENST00000441731
  gene symbol: R3HDM2
  hgvsc: ENST00000441731.2:c.-41G>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.1019G>A
  hgvsp: ENSP00000385839.1:p.Arg340His
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.977G>A
  hgvsp: ENSP00000317903.6:p.Arg326His
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.977G>A
  hgvsp: ENSP00000351784.2:p.Arg326His
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.*69G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.977G>A
  hgvsp: ENSP00000385169.2:p.Arg326His
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29054
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg326His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

12-57677761-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57677761
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57677761
    reference: chr 12
allele count: 3
allele frequency: 2.49297811165218e-5
allele num: 120338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.371A>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.975A>C
  hgvsp: ENST00000358907.2:c.975A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000408536
  ensembl transcript: ENST00000441731
  gene symbol: R3HDM2
  hgvsc: ENST00000441731.2:c.-43A>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.975A>C
  hgvsp: ENST00000403821.2:c.975A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.270A>C
  hgvsp: ENST00000429355.2:c.270A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.1017A>C
  hgvsp: ENST00000402412.1:c.1017A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.156A>C
  hgvsp: ENST00000413953.2:c.156A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.585A>C
  hgvsp: ENST00000547262.1:c.585A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.811A>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.*67A>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.975A>C
  hgvsp: ENST00000347140.3:c.975A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Pro325Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

12-57677768-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57677768
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57677768
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 119448
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.149T>A
  hgvsp: ENSP00000409146.2:p.Leu50Gln
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.968T>A
  hgvsp: ENSP00000385169.2:p.Leu323Gln
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000408536
  ensembl transcript: ENST00000441731
  gene symbol: R3HDM2
  hgvsc: ENST00000441731.2:c.-50T>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.968T>A
  hgvsp: ENSP00000317903.6:p.Leu323Gln
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.1010T>A
  hgvsp: ENSP00000385839.1:p.Leu337Gln
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.968T>A
  hgvsp: ENSP00000351784.2:p.Leu323Gln
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.578T>A
  hgvsp: ENSP00000450411.1:p.Leu193Gln
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.263T>A
  hgvsp: ENSP00000394676.2:p.Leu88Gln
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.*60T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.364T>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.804T>A
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28456
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu323Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

12-57677768-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57677768
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57677768
    reference: chr 12
allele count: 1
allele frequency: 8.37184381488179e-6
allele num: 119448
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.804T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.149T>C
  hgvsp: ENSP00000409146.2:p.Leu50Pro
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.968T>C
  hgvsp: ENSP00000351784.2:p.Leu323Pro
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.263T>C
  hgvsp: ENSP00000394676.2:p.Leu88Pro
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000408536
  ensembl transcript: ENST00000441731
  gene symbol: R3HDM2
  hgvsc: ENST00000441731.2:c.-50T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.1010T>C
  hgvsp: ENSP00000385839.1:p.Leu337Pro
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.*60T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.968T>C
  hgvsp: ENSP00000385169.2:p.Leu323Pro
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.968T>C
  hgvsp: ENSP00000317903.6:p.Leu323Pro
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.578T>C
  hgvsp: ENSP00000450411.1:p.Leu193Pro
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.364T>C
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu323Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD

12-57677770-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57677770
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57677770
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 119288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000408536
  ensembl transcript: ENST00000441731
  gene symbol: R3HDM2
  hgvsc: ENST00000441731.2:c.-52C>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.966C>A
  hgvsp: ENST00000347140.3:c.966C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.261C>A
  hgvsp: ENST00000429355.2:c.261C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.*58C>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.966C>A
  hgvsp: ENST00000403821.2:c.966C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.802C>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.966C>A
  hgvsp: ENST00000358907.2:c.966C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.576C>A
  hgvsp: ENST00000547262.1:c.576C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.147C>A
  hgvsp: ENST00000413953.2:c.147C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.1008C>A
  hgvsp: ENST00000402412.1:c.1008C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.362C>A
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28379
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser322Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

12-57677782-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57677782
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57677782
    reference: chr 12
allele count: 5
allele frequency: 4.412439549578171e-5
allele num: 113316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.954C>T
  hgvsp: ENST00000403821.2:c.954C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.350C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.996C>T
  hgvsp: ENST00000402412.1:c.996C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.135C>T
  hgvsp: ENST00000413953.2:c.135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.249C>T
  hgvsp: ENST00000429355.2:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.*46C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.564C>T
  hgvsp: ENST00000547262.1:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.954C>T
  hgvsp: ENST00000358907.2:c.954C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.790C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.954C>T
  hgvsp: ENST00000347140.3:c.954C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7776
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser318Ser
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

12-57677800-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57677800
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57677800
    reference: chr 12
allele count: 2
allele frequency: 2.063514991436413e-5
allele num: 96922
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.936C>T
  hgvsp: ENST00000403821.2:c.936C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.978C>T
  hgvsp: ENST00000402412.1:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.772C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.546C>T
  hgvsp: ENST00000547262.1:c.546C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.332C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.117C>T
  hgvsp: ENST00000413953.2:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.231C>T
  hgvsp: ENST00000429355.2:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.936C>T
  hgvsp: ENST00000358907.2:c.936C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.*28C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.936C>T
  hgvsp: ENST00000347140.3:c.936C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12140
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23200
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg312Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum

12-57677801-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57677801
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57677801
    reference: chr 12
allele count: 2
allele frequency: 2.073914305860882e-5
allele num: 96436
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.331G>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.230G>A
  hgvsp: ENSP00000394676.2:p.Arg77His
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.545G>A
  hgvsp: ENSP00000450411.1:p.Arg182His
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.977G>A
  hgvsp: ENSP00000385839.1:p.Arg326His
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.935G>A
  hgvsp: ENSP00000317903.6:p.Arg312His
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.935G>A
  hgvsp: ENSP00000351784.2:p.Arg312His
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.935G>A
  hgvsp: ENSP00000385169.2:p.Arg312His
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.116G>A
  hgvsp: ENSP00000409146.2:p.Arg39His
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.771G>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.*27G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8105
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg312His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

12-57677802-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57677802
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57677802
    reference: chr 12
allele count: 1
allele frequency: 1.068444558411864e-5
allele num: 93594
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.934C>T
  hgvsp: ENSP00000317903.6:p.Arg312Cys
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.934C>T
  hgvsp: ENSP00000351784.2:p.Arg312Cys
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.544C>T
  hgvsp: ENSP00000450411.1:p.Arg182Cys
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.770C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.330C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.115C>T
  hgvsp: ENSP00000409146.2:p.Arg39Cys
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.976C>T
  hgvsp: ENSP00000385839.1:p.Arg326Cys
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.934C>T
  hgvsp: ENSP00000385169.2:p.Arg312Cys
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.*26C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.229C>T
  hgvsp: ENSP00000394676.2:p.Arg77Cys
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11642
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg312Cys
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

12-57677815-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57677815
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57677815
    reference: chr 12
allele count: 1
allele frequency: 1.259382398871593e-5
allele num: 79404
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.*13C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.921C>T
  hgvsp: ENST00000347140.3:c.921C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.921C>T
  hgvsp: ENST00000403821.2:c.921C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.921C>T
  hgvsp: ENST00000358907.2:c.921C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.216C>T
  hgvsp: ENST00000429355.2:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.757C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.963C>T
  hgvsp: ENST00000402412.1:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.531C>T
  hgvsp: ENST00000547262.1:c.531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.102C>T
  hgvsp: ENST00000413953.2:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.317C>T
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14017
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg307Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

12-57677817-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57677817
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57677817
    reference: chr 12
allele count: 2
allele frequency: 2.589801362235516e-5
allele num: 77226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.214C>T
  hgvsp: ENSP00000394676.2:p.Arg72Cys
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.100C>T
  hgvsp: ENSP00000409146.2:p.Arg34Cys
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.919C>T
  hgvsp: ENSP00000351784.2:p.Arg307Cys
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.919C>T
  hgvsp: ENSP00000317903.6:p.Arg307Cys
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.961C>T
  hgvsp: ENSP00000385839.1:p.Arg321Cys
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.529C>T
  hgvsp: ENSP00000450411.1:p.Arg177Cys
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.*11C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.315C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.755C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.919C>T
  hgvsp: ENSP00000385169.2:p.Arg307Cys
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6792
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16376
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg307Cys
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

12-57677823-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57677823
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57677823
    reference: chr 12
allele count: 1
allele frequency: 1.493607360497072e-5
allele num: 66952
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.955C>G
  hgvsp: ENSP00000385839.1:p.Leu319Val
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.749C>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.208C>G
  hgvsp: ENSP00000394676.2:p.Leu70Val
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.913C>G
  hgvsp: ENSP00000351784.2:p.Leu305Val
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.94C>G
  hgvsp: ENSP00000409146.2:p.Leu32Val
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.523C>G
  hgvsp: ENSP00000450411.1:p.Leu175Val
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.*5C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.913C>G
  hgvsp: ENSP00000385169.2:p.Leu305Val
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.913C>G
  hgvsp: ENSP00000317903.6:p.Leu305Val
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.309C>G
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16214
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu305Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

12-57677831-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57677831
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57677831
    reference: chr 12
allele count: 1
allele frequency: 1.625329129148653e-5
allele num: 61526
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.905G>A
  hgvsp: ENSP00000385169.2:p.Arg302His
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.200G>A
  hgvsp: ENSP00000394676.2:p.Arg67His
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.947G>A
  hgvsp: ENSP00000385839.1:p.Arg316His
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.905G>A
  hgvsp: ENSP00000351784.2:p.Arg302His
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.86G>A
  hgvsp: ENSP00000409146.2:p.Arg29His
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.515G>A
  hgvsp: ENSP00000450411.1:p.Arg172His
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.192G>A
  hgvsp: ENST00000548184.1:c.192G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.301G>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.905G>A
  hgvsp: ENSP00000317903.6:p.Arg302His
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.741G>A
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20595
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7823
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg302His
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD

12-57677852-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57677852
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57677852
    reference: chr 12
allele count: 6
allele frequency: 1.337494427106554e-4
allele num: 44860
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.184-13A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.939-13A>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.897-13A>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.293-13A>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.733-13A>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.78-13A>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.192-13A>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.897-13A>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.897-13A>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.507-13A>G
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11020
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16374
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19427
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16815
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP

12-57682602-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57682602
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57682602
    reference: chr 12
allele count: 1
allele frequency: 4.85295544986897e-5
allele num: 20606
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.896+38T>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.896+38T>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.292+3753T>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.191+190T>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.733-4763T>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.938+190T>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.78-4763T>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.896+38T>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.184-4763T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.506+190T>A
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-57682619-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57682619
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57682619
    reference: chr 12
allele count: 1
allele frequency: 4.740235115661737e-5
allele num: 21096
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.896+21T>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.938+173T>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.733-4780T>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.506+173T>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.896+21T>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.292+3736T>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.191+173T>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.184-4780T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.78-4780T>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.896+21T>G
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 7.5e0
  variant carriers: 0
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: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

12-57682777-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57682777
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57682777
    reference: chr 12
allele count: 1
allele frequency: 4.519161243673174e-5
allele num: 22128
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.78-4938G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.733-4938G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.191+15G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.938+15G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.184-4938G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.842+15G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.842+15G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.842+15G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.506+15G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.292+3578G>C
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-57682780-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57682780
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57682780
    reference: chr 12
allele count: 1
allele frequency: 4.517119884361731e-5
allele num: 22138
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.184-4941T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.506+12T>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.842+12T>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.842+12T>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.78-4941T>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.292+3575T>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.733-4941T>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.191+12T>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.842+12T>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.938+12T>G
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/12-57682821-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57682821
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57682821
    reference: chr 12
allele count: 1
allele frequency: 4.527345164795364e-5
allele num: 22088
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.292+3534T>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.733-4982T>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.909T>G
  hgvsp: ENST00000402412.1:c.909T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.184-4982T>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.813T>G
  hgvsp: ENST00000403821.2:c.813T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.813T>G
  hgvsp: ENST00000347140.3:c.813T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.78-4982T>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.477T>G
  hgvsp: ENST00000547262.1:c.477T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.813T>G
  hgvsp: ENST00000358907.2:c.813T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.162T>G
  hgvsp: ENST00000429355.2:c.162T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 9.25e1
  variant carriers: 0
hgvs: c.813T>G
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

12-57682831-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57682831
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57682832
    reference: chr 12
allele count: 1
allele frequency: 4.542563823021714e-5
allele num: 22014
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.78-4993dupC
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.292+3523dupC
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.475-9dupC
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.184-4993dupC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.811-9dupC
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.907-9dupC
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.160-9dupC
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.811-9dupC
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.811-9dupC
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.733-4993dupC
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

12-57682832-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57682832
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57682832
    reference: chr 12
allele count: 1
allele frequency: 4.543802253725918e-5
allele num: 22008
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.184-4993C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.811-9C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.811-9C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.733-4993C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.78-4993C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.907-9C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.475-9C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.811-9C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.160-9C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.292+3523C>T
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

12-57682843-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57682843
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57682843
    reference: chr 12
allele count: 1
allele frequency: 4.561211457763182e-5
allele num: 21924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.78-5004G>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.811-20G>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.184-5004G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.475-20G>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.907-20G>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.811-20G>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.160-20G>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.292+3512G>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.733-5004G>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.811-20G>A
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

12-57686462-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57686462
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57686462
    reference: chr 12
allele count: 1
allele frequency: 6.092360180333861e-5
allele num: 16414
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.474+2720T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.732+2720T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.82-30T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.810+2720T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.77+2720T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.810+2720T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.197-12T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.183+2720T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.810+2720T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.811-12T>C
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

12-57689160-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57689160
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57689160
    reference: chr 12
allele count: 1
allele frequency: 4.220477758082215e-5
allele num: 23694
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.810+22G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.732+22G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.81+22G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.474+22G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.77+22G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.810+22G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.810+22G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.810+22G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.196+22G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.183+22G>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

12-57689171-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57689171
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57689171
    reference: chr 12
allele count: 2
allele frequency: 8.420343550016841e-5
allele num: 23752
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.77+11G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.474+11G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.810+11G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.183+11G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.81+11G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.810+11G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.810+11G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.810+11G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.732+11G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.196+11G>C
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

12-57689185-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57689185
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57689185
    reference: chr 12
allele count: 1
allele frequency: 4.211945076236206e-5
allele num: 23742
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.729C>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.193C>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.807C>G
  hgvsp: ENSP00000385169.2:p.Asn269Lys
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.471C>G
  hgvsp: ENSP00000450411.1:p.Asn157Lys
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.807C>G
  hgvsp: ENSP00000351784.2:p.Asn269Lys
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.74C>G
  hgvsp: ENSP00000409146.2:p.Thr25Ser
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.78C>G
  hgvsp: ENSP00000394676.2:p.Asn26Lys
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.180C>G
  hgvsp: ENSP00000477227.1:p.Asn60Lys
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.807C>G
  hgvsp: ENSP00000317903.6:p.Asn269Lys
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.807C>G
  hgvsp: ENSP00000385839.1:p.Asn269Lys
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn269Lys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

12-57689227-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57689227
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57689227
    reference: chr 12
allele count: 1
allele frequency: 4.278257893385813e-5
allele num: 23374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.765C>T
  hgvsp: ENST00000402412.1:c.765C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.765C>T
  hgvsp: ENST00000358907.2:c.765C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.32C>T
  hgvsp: ENSP00000409146.2:p.Ser11Leu
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.429C>T
  hgvsp: ENST00000547262.1:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000394676
  ensembl transcript: ENST00000429355
  gene symbol: R3HDM2
  hgvsc: ENST00000429355.2:c.36C>T
  hgvsp: ENST00000429355.2:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.138C>T
  hgvsp: ENST00000548184.1:c.138C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000547019
  gene symbol: R3HDM2
  hgvsc: ENST00000547019.1:n.151C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.765C>T
  hgvsp: ENST00000347140.3:c.765C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.765C>T
  hgvsp: ENST00000403821.2:c.765C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.687C>T
  variant of: http://identifiers.org/hgnc/29167
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser11Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/12-57690235-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57690235
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57690235
    reference: chr 12
allele count: 2
allele frequency: 8.5295121119072e-5
allele num: 23448
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.660T>G
  hgvsp: ENST00000403821.2:c.660T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.33T>G
  hgvsp: ENST00000548184.1:c.33T>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.324T>G
  hgvsp: ENST00000547262.1:c.324T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.660T>G
  hgvsp: ENST00000402412.1:c.660T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.660T>G
  hgvsp: ENST00000358907.2:c.660T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.660T>G
  hgvsp: ENST00000347140.3:c.660T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.582T>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.-74T>G
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Thr220Thr
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

12-57690259-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57690259
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57690259
    reference: chr 12
allele count: 4
allele frequency: 1.722801274872943e-4
allele num: 23218
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.636G>A
  hgvsp: ENST00000347140.3:c.636G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.300G>A
  hgvsp: ENST00000547262.1:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.636G>A
  hgvsp: ENST00000403821.2:c.636G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.636G>A
  hgvsp: ENST00000358907.2:c.636G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258830
  ensembl protein: ENSP00000477227
  ensembl transcript: ENST00000548184
  gene symbol: RP11-123K3.4
  hgvsc: ENST00000548184.1:c.9G>A
  hgvsp: ENST00000548184.1:c.9G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.558G>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.636G>A
  hgvsp: ENST00000402412.1:c.636G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000409146
  ensembl transcript: ENST00000413953
  gene symbol: R3HDM2
  hgvsc: ENST00000413953.2:c.-98G>A
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly212Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

12-57690310-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57690310
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57690310
    reference: chr 12
allele count: 7
allele frequency: 3.13507703332139e-4
allele num: 22328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.585G>A
  hgvsp: ENST00000403821.2:c.585G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.585G>A
  hgvsp: ENST00000402412.1:c.585G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.249G>A
  hgvsp: ENST00000547262.1:c.249G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.585G>A
  hgvsp: ENST00000347140.3:c.585G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.585G>A
  hgvsp: ENST00000358907.2:c.585G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.507G>A
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2413
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln195Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum

12-57690329-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57690329
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57690329
    reference: chr 12
allele count: 1
allele frequency: 4.521204448865178e-5
allele num: 22118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.566A>C
  hgvsp: ENSP00000385169.2:p.Gln189Pro
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.488A>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.230A>C
  hgvsp: ENSP00000450411.1:p.Gln77Pro
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.566A>C
  hgvsp: ENSP00000385839.1:p.Gln189Pro
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.566A>C
  hgvsp: ENSP00000351784.2:p.Gln189Pro
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.566A>C
  hgvsp: ENSP00000317903.6:p.Gln189Pro
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5406
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln189Pro
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/12-57690347-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57690347
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57690347
    reference: chr 12
allele count: 1
allele frequency: 4.601932811780948e-5
allele num: 21730
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.561-13G>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.470G>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.561-13G>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.561-13G>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.561-13G>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.225-13G>T
  variant of: http://identifiers.org/hgnc/29167
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5215
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP

12-57690349-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57690349
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57690349
    reference: chr 12
allele count: 1
allele frequency: 4.607021100156639e-5
allele num: 21706
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.561-15C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.468C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.225-15C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.561-15C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.561-15C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.561-15C>T
  variant of: http://identifiers.org/hgnc/29167
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5163
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

12-57690352-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57690352
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57690351
    reference: chr 12
allele count: 1
allele frequency: 4.621499214345133e-5
allele num: 21638
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.561-19delT
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.561-19delT
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.225-19delT
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.561-19delT
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.464delT
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.561-19delT
  variant of: http://identifiers.org/hgnc/29167
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4780
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: GA
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

12-57690353-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57690353
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57690353
    reference: chr 12
allele count: 4
allele frequency: 1.848770567572564e-4
allele num: 21636
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.561-19T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.225-19T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.561-19T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.561-19T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000393811
  gene symbol: R3HDM2
  hgvsc: ENST00000393811.2:n.464T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.561-19T>C
  variant of: http://identifiers.org/hgnc/29167
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4826
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

12-57691076-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57691076
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57691076
    reference: chr 12
allele count: 1
allele frequency: 4.577916132576451e-5
allele num: 21844
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.560+35G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.224+35G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.560+35G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.560+35G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.560+35G>C
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12591
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3643
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4414
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD

12-57691186-T-TAAAAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57691186
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57691191
    reference: chr 12
allele count: 51
allele frequency: 2.346769740474876e-3
allele num: 21732
alternate allele: TAAAAC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.501-21_501-17dupGTTTT
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.501-21_501-17dupGTTTT
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.165-21_165-17dupGTTTT
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.501-21_501-17dupGTTTT
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.501-21_501-17dupGTTTT
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19901
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3757
  bin: 9.75e1
  variant carriers: 53
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17824
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

12-57691186-TAAAAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57691186
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57691181
    reference: chr 12
allele count: 4
allele frequency: 1.84060371801951e-4
allele num: 21732
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.501-21_501-17delGTTTT
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.501-21_501-17delGTTTT
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.501-21_501-17delGTTTT
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.165-21_165-17delGTTTT
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.501-21_501-17delGTTTT
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19901
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3818
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17824
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: TAAAAC
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

12-57691195-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57691195
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57691195
    reference: chr 12
allele count: 1
allele frequency: 4.729474082482028e-5
allele num: 21144
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.501-25T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.165-25T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.501-25T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.501-25T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.501-25T>C
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17397
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3705
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4996
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-57691203-AAAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57691203
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57691200
    reference: chr 12
allele count: 1
allele frequency: 4.742483164184767e-5
allele num: 21086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.501-36_501-34delGTT
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.501-36_501-34delGTT
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.501-36_501-34delGTT
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.165-36_165-34delGTT
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.501-36_501-34delGTT
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17378
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12748
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3453
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4846
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: AAAC
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

12-57691843-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57691843
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57691843
    reference: chr 12
allele count: 1
allele frequency: 4.689551678859501e-5
allele num: 21324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000551465
  gene symbol: R3HDM2
  hgvsc: ENST00000551465.1:n.553G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.500+30G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.500+30G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.164+30G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.500+30G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000552428
  gene symbol: R3HDM2
  hgvsc: ENST00000552428.1:n.293+30G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.500+30G>C
  variant of: http://identifiers.org/hgnc/29167
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

12-57691864-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57691864
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57691864
    reference: chr 12
allele count: 2
allele frequency: 9.323140033563304e-5
allele num: 21452
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000552428
  gene symbol: R3HDM2
  hgvsc: ENST00000552428.1:n.293+9A>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.500+9A>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.500+9A>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.500+9A>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.164+9A>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000551465
  gene symbol: R3HDM2
  hgvsc: ENST00000551465.1:n.532A>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.500+9A>G
  variant of: http://identifiers.org/hgnc/29167
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4609
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-57691865-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57691865
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57691865
    reference: chr 12
allele count: 9
allele frequency: 4.194239910522882e-4
allele num: 21458
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.500+8C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.164+8C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000552428
  gene symbol: R3HDM2
  hgvsc: ENST00000552428.1:n.293+8C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.500+8C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.500+8C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000551465
  gene symbol: R3HDM2
  hgvsc: ENST00000551465.1:n.531C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.500+8C>T
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4628
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 7.75e1
  variant carriers: 0
hgvs: c.500+8C>T
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-57691881-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57691881
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57691881
    reference: chr 12
allele count: 1
allele frequency: 4.642525533890436e-5
allele num: 21540
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.492G>T
  hgvsp: ENSP00000351784.2:p.Lys164Asn
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.492G>T
  hgvsp: ENSP00000385839.1:p.Lys164Asn
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.492G>T
  hgvsp: ENSP00000317903.6:p.Lys164Asn
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.156G>T
  hgvsp: ENSP00000450411.1:p.Lys52Asn
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.492G>T
  hgvsp: ENSP00000385169.2:p.Lys164Asn
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000551465
  gene symbol: R3HDM2
  hgvsc: ENST00000551465.1:n.515G>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000552428
  gene symbol: R3HDM2
  hgvsc: ENST00000552428.1:n.285G>T
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4718
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys164Asn
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-57691891-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57691891
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57691891
    reference: chr 12
allele count: 1
allele frequency: 4.633061527057079e-5
allele num: 21584
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000551465
  gene symbol: R3HDM2
  hgvsc: ENST00000551465.1:n.505C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.482C>T
  hgvsp: ENSP00000351784.2:p.Thr161Ile
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.482C>T
  hgvsp: ENSP00000317903.6:p.Thr161Ile
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000552428
  gene symbol: R3HDM2
  hgvsc: ENST00000552428.1:n.275C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.482C>T
  hgvsp: ENSP00000385169.2:p.Thr161Ile
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.146C>T
  hgvsp: ENSP00000450411.1:p.Thr49Ile
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.482C>T
  hgvsp: ENSP00000385839.1:p.Thr161Ile
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr161Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

12-57691913-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57691913
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57691913
    reference: chr 12
allele count: 10
allele frequency: 4.621072088724584e-4
allele num: 21640
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.124C>T
  hgvsp: ENST00000547262.1:c.124C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.460C>T
  hgvsp: ENST00000403821.2:c.460C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.460C>T
  hgvsp: ENST00000347140.3:c.460C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.460C>T
  hgvsp: ENST00000402412.1:c.460C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.460C>T
  hgvsp: ENST00000358907.2:c.460C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000551465
  gene symbol: R3HDM2
  hgvsc: ENST00000551465.1:n.483C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000552428
  gene symbol: R3HDM2
  hgvsc: ENST00000552428.1:n.253C>T
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu154Leu
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

12-57691932-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57691932
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57691932
    reference: chr 12
allele count: 1
allele frequency: 4.623208506703652e-5
allele num: 21630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.441G>A
  hgvsp: ENST00000402412.1:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.105G>A
  hgvsp: ENST00000547262.1:c.105G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000552428
  gene symbol: R3HDM2
  hgvsc: ENST00000552428.1:n.234G>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.441G>A
  hgvsp: ENST00000347140.3:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.441G>A
  hgvsp: ENST00000358907.2:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000551465
  gene symbol: R3HDM2
  hgvsc: ENST00000551465.1:n.464G>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.441G>A
  hgvsp: ENST00000403821.2:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4812
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr147Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD

12-57691986-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57691986
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57691986
    reference: chr 12
allele count: 5
allele frequency: 3.160556257901391e-4
allele num: 15820
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.422-35A>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.422-35A>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.422-35A>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000551465
  gene symbol: R3HDM2
  hgvsc: ENST00000551465.1:n.445-35A>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000552428
  gene symbol: R3HDM2
  hgvsc: ENST00000552428.1:n.215-35A>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.86-35A>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.422-35A>G
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 7.5e0
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum

http://identifiers.org/exac.variant/12-57691990-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57691990
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57691989
    reference: chr 12
allele count: 10366
allele frequency: 4.825884543761639e-1
allele num: 21480
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000552428
  gene symbol: R3HDM2
  hgvsc: ENST00000552428.1:n.215-40delG
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.422-40delG
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000551465
  gene symbol: R3HDM2
  hgvsc: ENST00000551465.1:n.445-40delG
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.422-40delG
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.422-40delG
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.86-40delG
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.422-40delG
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.75e1
  variant carriers: 350
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 230
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 811
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 2.5e0
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.25e1
  variant carriers: 312
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 3.25e1
  variant carriers: 1071
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 2.25e1
  variant carriers: 629
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 9.75e1
  variant carriers: 1176
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 2.75e1
  variant carriers: 910
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 157
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 163
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 526
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 3.75e1
  variant carriers: 988
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 7.5e0
  variant carriers: 86
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 6.25e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.25e1
  variant carriers: 53
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 7.75e1
  variant carriers: 114
genotype quality: GenotypeQuality
  all individuals: 7914
  bin: 9.75e1
  variant carriers: 7007
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 19
num of homozygotes: 2584
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: AC
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

12-57693095-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57693095
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57693095
    reference: chr 12
allele count: 15
allele frequency: 6.522873543224908e-4
allele num: 22996
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.421+40T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.421+40T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.421+40T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000552428
  gene symbol: R3HDM2
  hgvsc: ENST00000552428.1:n.214+40T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.421+40T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.85+40T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000551465
  gene symbol: R3HDM2
  hgvsc: ENST00000551465.1:n.444+40T>C
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

12-57693111-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57693111
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57693111
    reference: chr 12
allele count: 1
allele frequency: 4.343293954134816e-5
allele num: 23024
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.421+24A>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.421+24A>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.421+24A>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000552428
  gene symbol: R3HDM2
  hgvsc: ENST00000552428.1:n.214+24A>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.421+24A>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.85+24A>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000551465
  gene symbol: R3HDM2
  hgvsc: ENST00000551465.1:n.444+24A>C
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

12-57693183-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57693183
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57693183
    reference: chr 12
allele count: 3
allele frequency: 1.330612969041072e-4
allele num: 22546
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.373G>A
  hgvsp: ENSP00000317903.6:p.Asp125Asn
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000450411
  ensembl transcript: ENST00000547262
  gene symbol: R3HDM2
  hgvsc: ENST00000547262.1:c.37G>A
  hgvsp: ENSP00000450411.1:p.Asp13Asn
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.373G>A
  hgvsp: ENSP00000385839.1:p.Asp125Asn
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.373G>A
  hgvsp: ENSP00000385169.2:p.Asp125Asn
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000552428
  gene symbol: R3HDM2
  hgvsc: ENST00000552428.1:n.166G>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.373G>A
  hgvsp: ENSP00000351784.2:p.Asp125Asn
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000551465
  gene symbol: R3HDM2
  hgvsc: ENST00000551465.1:n.396G>A
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp125Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

12-57693238-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57693238
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57693238
    reference: chr 12
allele count: 1
allele frequency: 4.582531390340024e-5
allele num: 21822
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000551465
  gene symbol: R3HDM2
  hgvsc: ENST00000551465.1:n.341T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.318T>C
  hgvsp: ENST00000402412.1:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.318T>C
  hgvsp: ENST00000358907.2:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.318T>C
  hgvsp: ENST00000347140.3:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.318T>C
  hgvsp: ENST00000403821.2:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000552428
  gene symbol: R3HDM2
  hgvsc: ENST00000552428.1:n.111T>C
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4676
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3496
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser106Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

12-57693246-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57693246
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57693246
    reference: chr 12
allele count: 4
allele frequency: 1.837390904915021e-4
allele num: 21770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.310C>T
  hgvsp: ENSP00000351784.2:p.His104Tyr
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000552428
  gene symbol: R3HDM2
  hgvsc: ENST00000552428.1:n.103C>T
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.310C>T
  hgvsp: ENSP00000385839.1:p.His104Tyr
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.310C>T
  hgvsp: ENSP00000317903.6:p.His104Tyr
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.310C>T
  hgvsp: ENSP00000385169.2:p.His104Tyr
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000551465
  gene symbol: R3HDM2
  hgvsc: ENST00000551465.1:n.333C>T
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4666
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His104Tyr
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

12-57693266-A-AGGGGAAAAAGGATAATCAAAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57693266
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57693287
    reference: chr 12
allele count: 1
allele frequency: 4.618510992056161e-5
allele num: 21652
alternate allele: AGGGGAAAAAGGATAATCAAAG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000552428
  gene symbol: R3HDM2
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000551465
  gene symbol: R3HDM2
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4576
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
hgvs: c.295-26_295-6dupCTTTGATTATCCTTTTTCCCC
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

12-57693849-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57693849
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57693848
    reference: chr 12
allele count: 1
allele frequency: 4.666355576294913e-5
allele num: 21430
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.294+28delC
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.294+28delC
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000551465
  gene symbol: R3HDM2
  hgvsc: ENST00000551465.1:n.317+28delC
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.294+28delC
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.294+28delC
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000552428
  gene symbol: R3HDM2
  hgvsc: ENST00000552428.1:n.87+28delC
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: AG
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

12-57693855-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57693855
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57693855
    reference: chr 12
allele count: 2
allele frequency: 9.322270905192505e-5
allele num: 21454
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.294+23T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.294+23T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.294+23T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.294+23T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000552428
  gene symbol: R3HDM2
  hgvsc: ENST00000552428.1:n.87+23T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000551465
  gene symbol: R3HDM2
  hgvsc: ENST00000551465.1:n.317+23T>C
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5949
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
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: A
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

12-57693882-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57693882
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57693882
    reference: chr 12
allele count: 1
allele frequency: 4.62620281273131e-5
allele num: 21616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.290C>A
  hgvsp: ENSP00000351784.2:p.Thr97Asn
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000551465
  gene symbol: R3HDM2
  hgvsc: ENST00000551465.1:n.313C>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.290C>A
  hgvsp: ENSP00000317903.6:p.Thr97Asn
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.290C>A
  hgvsp: ENSP00000385839.1:p.Thr97Asn
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.290C>A
  hgvsp: ENSP00000385169.2:p.Thr97Asn
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000552428
  gene symbol: R3HDM2
  hgvsc: ENST00000552428.1:n.83C>A
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr97Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

12-57693886-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57693886
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57693886
    reference: chr 12
allele count: 1
allele frequency: 4.621499214345133e-5
allele num: 21638
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000551465
  gene symbol: R3HDM2
  hgvsc: ENST00000551465.1:n.309G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000552428
  gene symbol: R3HDM2
  hgvsc: ENST00000552428.1:n.79G>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.286G>C
  hgvsp: ENSP00000351784.2:p.Glu96Gln
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.286G>C
  hgvsp: ENSP00000385839.1:p.Glu96Gln
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.286G>C
  hgvsp: ENSP00000385169.2:p.Glu96Gln
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.286G>C
  hgvsp: ENSP00000317903.6:p.Glu96Gln
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu96Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

12-57693897-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57693897
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57693897
    reference: chr 12
allele count: 2
allele frequency: 9.219138932423711e-5
allele num: 21694
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.275A>G
  hgvsp: ENSP00000351784.2:p.Asp92Gly
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000551465
  gene symbol: R3HDM2
  hgvsc: ENST00000551465.1:n.298A>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.275A>G
  hgvsp: ENSP00000385169.2:p.Asp92Gly
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.275A>G
  hgvsp: ENSP00000385839.1:p.Asp92Gly
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000552428
  gene symbol: R3HDM2
  hgvsc: ENST00000552428.1:n.68A>G
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.275A>G
  hgvsp: ENSP00000317903.6:p.Asp92Gly
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6567
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp92Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

12-57693923-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57693923
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57693923
    reference: chr 12
allele count: 1
allele frequency: 4.624063627115509e-5
allele num: 21626
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.249T>C
  hgvsp: ENST00000402412.1:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000552428
  gene symbol: R3HDM2
  hgvsc: ENST00000552428.1:n.42T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.249T>C
  hgvsp: ENST00000358907.2:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000551465
  gene symbol: R3HDM2
  hgvsc: ENST00000551465.1:n.272T>C
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.249T>C
  hgvsp: ENST00000403821.2:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.249T>C
  hgvsp: ENST00000347140.3:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1783
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Cys83Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

12-57693944-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57693944
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57693944
    reference: chr 12
allele count: 1
allele frequency: 4.679457182966776e-5
allele num: 21370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000351784
  ensembl transcript: ENST00000358907
  gene symbol: R3HDM2
  hgvsc: ENST00000358907.2:c.228G>A
  hgvsp: ENST00000358907.2:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385839
  ensembl transcript: ENST00000402412
  gene symbol: R3HDM2
  hgvsc: ENST00000402412.1:c.228G>A
  hgvsp: ENST00000402412.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000317903
  ensembl transcript: ENST00000347140
  gene symbol: R3HDM2
  hgvsc: ENST00000347140.3:c.228G>A
  hgvsp: ENST00000347140.3:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000552428
  gene symbol: R3HDM2
  hgvsc: ENST00000552428.1:n.21G>A
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000179912
  ensembl protein: ENSP00000385169
  ensembl transcript: ENST00000403821
  gene symbol: R3HDM2
  hgvsc: ENST00000403821.2:c.228G>A
  hgvsp: ENST00000403821.2:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29167
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000179912
  ensembl transcript: ENST00000551465
  gene symbol: R3HDM2
  hgvsc: ENST00000551465.1:n.251G>A
  variant of: http://identifiers.org/hgnc/29167
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6241
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu76Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/12-57693975-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57693975
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57693974
    reference: chr 12
allele count: 12
allele frequency: 5.951200158698671e-4
allele num: 20164
alternate allele: C
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: CA

GenotypeDepth
all individuals: 83
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43090
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1610
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1771
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10601
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 365
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2190
bin: 7.25e1
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

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

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

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: 66732
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.576e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.121e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.768e0

MQ
type: SiteQuality
SIO_000300: 5.876e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.525e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.787123e6

GenotypeDepth
all individuals: 34
bin: 9.25e1
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: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10594
bin: 6.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1769
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2187
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43094
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 363
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1611
bin: 9.75e1
variant carriers: 2

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 (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

FS
type: SiteQuality
SIO_000300: 2.914e0

DP
type: SiteQuality
SIO_000300: 1.786976e6

QD
type: SiteQuality
SIO_000300: 1.685e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

VQSLOD
type: SiteQuality
SIO_000300: -9.900000000000001e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.04e-1

GenotypeQuality
all individuals: 43092
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1608
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 1767
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10589
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2186
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.786645e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.635e1

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.39e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.73e0

GenotypeQuality
all individuals: 1764
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 275
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1605
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43097
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 736
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 363
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10591
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2186
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
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: 11574
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.135e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.89e0

DP
type: SiteQuality
SIO_000300: 1.786389e6

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.24e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.46e-1

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2174
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43055
bin: 6.25e1
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: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 115
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10558
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1758
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1602
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 361
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
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: 908
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: 11570
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.315e0

MQ
type: SiteQuality
SIO_000300: 5.863e1

DP
type: SiteQuality
SIO_000300: 1.784064e6

MQRankSum
type: SiteQuality
SIO_000300: 9.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

VQSLOD
type: SiteQuality
SIO_000300: -1.169e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.144e0

QD
type: SiteQuality
SIO_000300: 1.071e1

GenotypeQuality
all individuals: 361
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43009
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10549
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2170
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1601
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1759
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
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: -1.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

DP
type: SiteQuality
SIO_000300: 1.783131e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 1.951e1

VQSLOD
type: SiteQuality
SIO_000300: -1.505e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.2e-1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 1758
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500555205426008e-5
allele num: 66642
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.783001e6

FS
type: SiteQuality
SIO_000300: 1.399e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.738e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.69e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-2

QD
type: SiteQuality
SIO_000300: 1.36e1

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.96e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1592
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503759398496241e-5
allele num: 66500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
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: 11538
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.16e-1

QD
type: SiteQuality
SIO_000300: 1.365e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.627e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.97e-1

DP
type: SiteQuality
SIO_000300: 1.776876e6

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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variant carriers: 0

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

GenotypeQuality
all individuals: 350
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GenotypeQuality
all individuals: 718
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.173158141717503e-4
allele num: 8524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66118
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.27e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.759333e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 715
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 2116
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variant carriers: 0

GenotypeQuality
all individuals: 1579
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.029568589432865e-5
allele num: 66016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514692517418964e-4
allele num: 6602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.774e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

DP
type: SiteQuality
SIO_000300: 1.753409e6

VQSLOD
type: SiteQuality
SIO_000300: 7.44e-1

QD
type: SiteQuality
SIO_000300: 1.309e1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -8.88e-1

QD
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -8.88e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.908e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQ
type: SiteQuality
SIO_000300: 4.315e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
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: 11344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526670941345302e-5
allele num: 65502
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.72895e6

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

InbreedingCoeff
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SIO_000300: 9.0e-4

ClippingRankSum
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SIO_000300: 7.31e-1

ReadPosRankSum
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VQSLOD
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MQRankSum
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SIO_000300: -8.88e-1

MQ
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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DP
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SIO_000300: 1.72334e6

MQRankSum
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SIO_000300: -1.214e0

InbreedingCoeff
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SIO_000300: 1.6e-3

ReadPosRankSum
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VQSLOD
type: SiteQuality
SIO_000300: -6.694e-1

QD
type: SiteQuality
SIO_000300: 3.35e0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9878
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 8.043758043758043e-5
allele num: 62160
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.312e1

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.66e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.098e0

DP
type: SiteQuality
SIO_000300: 1.586167e6

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

South Asian
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allele count: 2
allele frequency: 1.36035913481159e-4
allele num: 14702
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 53134
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6042
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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QD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: -2.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

DP
type: SiteQuality
SIO_000300: 1.249941e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.96e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 52884
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
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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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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 1.261988894497728e-4
allele num: 7924
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.774937877174299e-4
allele num: 5634
num of homozygotes: 0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
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MQRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
SIO_000300: 5.925e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

ClippingRankSum
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SIO_000300: 7.75e-1

QD
type: SiteQuality
SIO_000300: 1.625e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.35e-1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51144
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7606
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 1
allele frequency: 6.909894969596462e-5
allele num: 14472
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MQRankSum
type: SiteQuality
SIO_000300: 3.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.3e-1

FS
type: SiteQuality
SIO_000300: 2.954e0

VQSLOD
type: SiteQuality
SIO_000300: 6.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

QD
type: SiteQuality
SIO_000300: 1.164e1

DP
type: SiteQuality
SIO_000300: 1.197765e6

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.333286667599981e-5
allele num: 42858
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13426
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7268
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5846
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

FS
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.094e1

MQRankSum
type: SiteQuality
SIO_000300: -7.39e-1

BaseQRankSum
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SIO_000300: -1.866e0

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

Latino
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allele count: 1
allele frequency: 1.791472590469366e-4
allele num: 5582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7052
num of homozygotes: 0

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

South Asian
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allele count: 0
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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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.405812442861954e-5
allele num: 41566
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.911e1

BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
type: SiteQuality
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DP
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ClippingRankSum
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QD
type: SiteQuality
SIO_000300: 1.516e1

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

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

East Asian
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allele frequency: 2.828054298642534e-4
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 35692
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

FS
type: SiteQuality
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QD
type: SiteQuality
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DP
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VQSLOD
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.947e1

BaseQRankSum
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SIO_000300: 1.73e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12010
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
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African
type: Population
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Other
type: Population
allele count: 0
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allele num: 536
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.057729941291585e-5
allele num: 32704
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4024
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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SIO_000300: 1.63e-1

MQ
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.73e0

GenotypeQuality
all individuals: 241
bin: 9.25e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 474
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1712
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.561735261401557e-4
allele num: 1798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4088
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 2.169950525128027e-4
allele num: 23042
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

QD
type: SiteQuality
SIO_000300: 1.241e1

VQSLOD
type: SiteQuality
SIO_000300: 2.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.23e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.79379e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1958
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.223091976516634e-4
allele num: 8176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.40314e5

QD
type: SiteQuality
SIO_000300: 1.684e1

FS
type: SiteQuality
SIO_000300: 3.027e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.989e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.05e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2044
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.180637544273908e-4
allele num: 8470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7870
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.44e-1

QD
type: SiteQuality
SIO_000300: 1.479e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.49e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

DP
type: SiteQuality
SIO_000300: 4.51217e5

VQSLOD
type: SiteQuality
SIO_000300: 3.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 2684
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9100
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2228
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.265182186234818e-4
allele num: 7904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.123e0

DP
type: SiteQuality
SIO_000300: 4.67185e5

MQ
type: SiteQuality
SIO_000300: 5.834e1

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.275e0

QD
type: SiteQuality
SIO_000300: 1.349e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.72e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 404
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variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9110
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2228
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.265182186234818e-4
allele num: 7904
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.649e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.75e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.6e-1

FS
type: SiteQuality
SIO_000300: 6.933e0

VQSLOD
type: SiteQuality
SIO_000300: -2.43e-1

QD
type: SiteQuality
SIO_000300: 1.081e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

DP
type: SiteQuality
SIO_000300: 4.67424e5

GenotypeQuality
all individuals: 671
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 29
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 326
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1634
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9090
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2216
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.633986928104575e-3
allele num: 612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7894
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MQRankSum
type: SiteQuality
SIO_000300: -1.085e0

VQSLOD
type: SiteQuality
SIO_000300: 4.14e-1

QD
type: SiteQuality
SIO_000300: 1.287e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.65608e5

FS
type: SiteQuality
SIO_000300: 2.521e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.954e0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1636
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.574565416285453e-4
allele num: 2186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9062
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.064e1

QD
type: SiteQuality
SIO_000300: 1.104e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.55e-1

FS
type: SiteQuality
SIO_000300: 9.429999999999999e-1

DP
type: SiteQuality
SIO_000300: 4.63579e5

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

MQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.138e0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 7886
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
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allele frequency: 1.103996467211305e-4
allele num: 9058
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 396
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.837e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.558e0

DP
type: SiteQuality
SIO_000300: 4.63838e5

MQRankSum
type: SiteQuality
SIO_000300: -8.73e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.38e0

ClippingRankSum
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SIO_000300: 2.26e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 123
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 15
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 9016
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2166
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7876
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.65016501650165e-3
allele num: 606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1632
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.60876e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.57e0

ReadPosRankSum
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SIO_000300: 1.42e0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

FS
type: SiteQuality
SIO_000300: 1.6746e1

QD
type: SiteQuality
SIO_000300: 1.152e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

VQSLOD
type: SiteQuality
SIO_000300: -2.482e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 1.30684788290643e-4
allele num: 7652
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5260
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.22e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 2.89989e5

FS
type: SiteQuality
SIO_000300: 4.187e0

VQSLOD
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SIO_000300: -1.065e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.41e-2

QD
type: SiteQuality
SIO_000300: 1.862e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 5.561735261401557e-4
allele num: 1798
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.683e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

QD
type: SiteQuality
SIO_000300: 1.5e1

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.84204e5

VQSLOD
type: SiteQuality
SIO_000300: -1.739e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 340
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.965022597759874e-4
allele num: 10178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1800
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.94e-1

MQ
type: SiteQuality
SIO_000300: 5.889e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.566e1

VQSLOD
type: SiteQuality
SIO_000300: 3.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

DP
type: SiteQuality
SIO_000300: 5.87367e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 628
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1798
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.84251968503937e-5
allele num: 10160
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.016e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: -7.958e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.4e-3

QD
type: SiteQuality
SIO_000300: 1.148e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.11e-1

FS
type: SiteQuality
SIO_000300: 2.392e0

DP
type: SiteQuality
SIO_000300: 5.88431e5

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1748
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.010305112143867e-4
allele num: 9898
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2468
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 458
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e0

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.45e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.084e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e0

DP
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SIO_000300: 5.82898e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 147
bin: 9.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.005615724027276e-4
allele num: 9972
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1748
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.691e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.36e-2

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

African
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allele frequency: 1.640689089417555e-3
allele num: 2438
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.42e-1

QD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
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South Asian
type: Population
allele count: 7
allele frequency: 8.845084660096032e-4
allele num: 7914
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1654
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.04e-1

FS
type: SiteQuality
SIO_000300: 6.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.15e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.19e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.213e0

QD
type: SiteQuality
SIO_000300: 1.32e1

DP
type: SiteQuality
SIO_000300: 4.32469e5

MQRankSum
type: SiteQuality
SIO_000300: -3.66e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2408
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 490
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9076
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1642
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.263583522870862e-4
allele num: 7914
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.087e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

FS
type: SiteQuality
SIO_000300: 4.562e0

VQSLOD
type: SiteQuality
SIO_000300: -4.805e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.93e-1

DP
type: SiteQuality
SIO_000300: 4.29295e5

QD
type: SiteQuality
SIO_000300: 1.242e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

MQ
type: SiteQuality
SIO_000300: 5.886e1

GenotypeQuality
all individuals: 56
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.136621959536258e-4
allele num: 8798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7898
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

FS
type: SiteQuality
SIO_000300: 3.099e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.54e0

VQSLOD
type: SiteQuality
SIO_000300: 5.649999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.13e-2

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.103e1

MQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

DP
type: SiteQuality
SIO_000300: 4.21046e5

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 142
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2402
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.138433515482696e-4
allele num: 8784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.629e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e0

DP
type: SiteQuality
SIO_000300: 4.20163e5

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.418e1

FS
type: SiteQuality
SIO_000300: 3.656e0

VQSLOD
type: SiteQuality
SIO_000300: 8.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2400
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variant carriers: 1

GenotypeQuality
all individuals: 373
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.145737855178735e-4
allele num: 8728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.305e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 8.99e0

DP
type: SiteQuality
SIO_000300: 4.15852e5

GenotypeQuality
all individuals: 260
bin: 8.25e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 5.068423720223011e-4
allele num: 7892
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2142
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.186e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.19e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
SIO_000300: 6.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.01e0

DP
type: SiteQuality
SIO_000300: 4.15578e5

QD
type: SiteQuality
SIO_000300: 1.184e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 362
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variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.516711833785004e-4
allele num: 2214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1632
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.45e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: -1.372e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.94e-2

DP
type: SiteQuality
SIO_000300: 6.12476e5

BaseQRankSum
type: SiteQuality
SIO_000300: -6.536e0

FS
type: SiteQuality
SIO_000300: 4.985e0

QD
type: SiteQuality
SIO_000300: 1.445e1

GenotypeQuality
all individuals: 2
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 249
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.123090745732255e-4
allele num: 8904
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 608
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South Asian
type: Population
allele count: 15
allele frequency: 1.909368635437882e-3
allele num: 7856
num of homozygotes: 0

African
type: Population
allele count: 34
allele frequency: 1.602262016965127e-2
allele num: 2122
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 6.090133982947625e-4
allele num: 1642
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.547e1

DP
type: SiteQuality
SIO_000300: 6.38164e5

VQSLOD
type: SiteQuality
SIO_000300: 5.87e-1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.011e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.17e-2

FS
type: SiteQuality
SIO_000300: 8.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.86e-1

QD
type: SiteQuality
SIO_000300: 1.222e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.818737270875764e-4
allele num: 7856
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 354
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2122
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1642
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.123090745732255e-4
allele num: 8904
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.38164e5

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.81e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.547e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

FS
type: SiteQuality
SIO_000300: 8.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.87e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 12653
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2012
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South Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.177301624676242e-4
allele num: 8494
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 598
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
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MQRankSum
type: SiteQuality
SIO_000300: -1.639e0

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.27e-1

MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3704
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GenotypeQuality
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Other
type: Population
allele count: 0
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allele num: 242
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South Asian
type: Population
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.183431952662722e-4
allele num: 8450
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2006
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e0

MQ
type: SiteQuality
SIO_000300: 5.427e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.660000000000001e-2

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.86e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 900
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GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 14
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2066
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
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African
type: Population
allele count: 1
allele frequency: 4.655493482309125e-4
allele num: 2148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1288
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8710
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.3263e1

MQ
type: SiteQuality
SIO_000300: 5.976e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.819e0

DP
type: SiteQuality
SIO_000300: 6.37002e5

QD
type: SiteQuality
SIO_000300: 1.378e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.248e0

VQSLOD
type: SiteQuality
SIO_000300: -2.739e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1821
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.294104152328516e-4
allele num: 8718
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.24e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.413e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

DP
type: SiteQuality
SIO_000300: 6.40047e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.11e-1

GenotypeQuality
all individuals: 404
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 9

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 1.137225170583776e-3
allele num: 7914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8718
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1410
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.738e0

MQRankSum
type: SiteQuality
SIO_000300: -2.21e-1

QD
type: SiteQuality
SIO_000300: 1.032e1

VQSLOD
type: SiteQuality
SIO_000300: 8.56e-1

DP
type: SiteQuality
SIO_000300: 6.40281e5

FS
type: SiteQuality
SIO_000300: 5.629999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.77e-1

GenotypeQuality
all individuals: 404
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
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variant carriers: 0

GenotypeQuality
all individuals: 2055
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.263583522870862e-4
allele num: 7914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8730
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.537000000000001e0

QD
type: SiteQuality
SIO_000300: 9.470000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.85e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.778e0

MQRankSum
type: SiteQuality
SIO_000300: -9.74e-1

DP
type: SiteQuality
SIO_000300: 6.41191e5

BaseQRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.97e-1

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1831
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 973
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 4763
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variant carriers: 0

GenotypeQuality
all individuals: 2054
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.144688644688645e-4
allele num: 8736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.009e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.302e0

DP
type: SiteQuality
SIO_000300: 6.41807e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.649999999999999e-1

QD
type: SiteQuality
SIO_000300: 9.220000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-2

GenotypeQuality
all individuals: 552
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4836
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 254
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variant carriers: 0

GenotypeQuality
all individuals: 670
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variant carriers: 0

GenotypeQuality
all individuals: 2055
bin: 9.75e1
variant carriers: 11

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8748
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 4.655493482309125e-3
allele num: 2148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.4334e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.57e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

QD
type: SiteQuality
SIO_000300: 1.269e1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 2049
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GenotypeQuality
all individuals: 100
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.143379830779785e-4
allele num: 8746
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1552
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.142e1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.077e0

DP
type: SiteQuality
SIO_000300: 6.42622e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

MQ
type: SiteQuality
SIO_000300: 5.94e1

FS
type: SiteQuality
SIO_000300: 1.131e0

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

GenotypeQuality
all individuals: 300
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 2.25e1
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GenotypeQuality
all individuals: 76
bin: 1.25e1
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GenotypeQuality
all individuals: 339
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GenotypeQuality
all individuals: 701
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 3.25e1
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GenotypeQuality
all individuals: 242
bin: 8.25e1
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GenotypeQuality
all individuals: 161
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.030181086519115e-4
allele num: 5964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 1.949317738791423e-3
allele num: 1026
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1878
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6010
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.664e0

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

QD
type: SiteQuality
SIO_000300: 1.195e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

DP
type: SiteQuality
SIO_000300: 5.87837e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.245e0

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 24

GenotypeQuality
all individuals: 220
bin: 7.25e1
variant carriers: 93

GenotypeQuality
all individuals: 121
bin: 2.25e1
variant carriers: 14

GenotypeQuality
all individuals: 70
bin: 1.25e1
variant carriers: 54

GenotypeQuality
all individuals: 340
bin: 6.75e1
variant carriers: 42

GenotypeQuality
all individuals: 244
bin: 9.25e1
variant carriers: 128

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 28

GenotypeQuality
all individuals: 194
bin: 8.75e1
variant carriers: 132

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 55

GenotypeQuality
all individuals: 91
bin: 4.25e1
variant carriers: 23

South Asian
type: Population
allele count: 3703
allele frequency: 4.688528741453533e-1
allele num: 7898
num of homozygotes: 902

European (Non-Finnish)
type: Population
allele count: 4717
allele frequency: 5.411886186324002e-1
allele num: 8716
num of homozygotes: 1287

East Asian
type: Population
allele count: 274
allele frequency: 4.477124183006536e-1
allele num: 612
num of homozygotes: 59

Other
type: Population
allele count: 140
allele frequency: 6.03448275862069e-1
allele num: 232
num of homozygotes: 43

European (Finnish)
type: Population
allele count: 622
allele frequency: 4.214092140921409e-1
allele num: 1476
num of homozygotes: 127

African
type: Population
allele count: 726
allele frequency: 3.395696913002806e-1
allele num: 2138
num of homozygotes: 128

Latino
type: Population
allele count: 184
allele frequency: 4.509803921568628e-1
allele num: 408
num of homozygotes: 38

DP
type: SiteQuality
SIO_000300: 5.91561e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.98e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

MQ
type: SiteQuality
SIO_000300: 6.032e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 2.427e1

GenotypeQuality
all individuals: 162
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 713
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variant carriers: 0

GenotypeQuality
all individuals: 59
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GenotypeQuality
all individuals: 4290
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GenotypeQuality
all individuals: 37
bin: 1.25e1
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GenotypeQuality
all individuals: 3510
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 358
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GenotypeQuality
all individuals: 444
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GenotypeQuality
all individuals: 176
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2412
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1696
num of homozygotes: 0

East Asian
type: Population
allele count: 14
allele frequency: 2.236421725239617e-2
allele num: 626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9694
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.27000254000508e-4
allele num: 7874
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

QD
type: SiteQuality
SIO_000300: 1.155e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.65e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.942e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

DP
type: SiteQuality
SIO_000300: 5.77365e5

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
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GenotypeQuality
all individuals: 3497
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 174
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.75e1
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GenotypeQuality
all individuals: 447
bin: 7.75e1
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GenotypeQuality
all individuals: 4886
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.145936981757877e-4
allele num: 2412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1702
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9688
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

QD
type: SiteQuality
SIO_000300: 1.07e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.244e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.38e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

DP
type: SiteQuality
SIO_000300: 5.82018e5

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3498
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 67
bin: 2.5e0
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GenotypeQuality
all individuals: 174
bin: 9.25e1
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GenotypeQuality
all individuals: 625
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
all individuals: 4849
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.067919692439129e-4
allele num: 9364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1656
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.527167045741723e-4
allele num: 7914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

QD
type: SiteQuality
SIO_000300: 1.166e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.79183e5

FS
type: SiteQuality
SIO_000300: 5.167e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.082e0

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
all individuals: 348
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GenotypeQuality
all individuals: 439
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variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 4.612546125461254e-4
allele num: 2168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8840
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.66e0

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.07e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.478e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e-2

DP
type: SiteQuality
SIO_000300: 5.71687e5

QD
type: SiteQuality
SIO_000300: 1.688e1

GenotypeQuality
all individuals: 348
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
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GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3498
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 439
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variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 9.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8804
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 5.055611729019212e-4
allele num: 7912
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.4e-1

QD
type: SiteQuality
SIO_000300: 1.18e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.15e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.834e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.11e-2

DP
type: SiteQuality
SIO_000300: 5.71144e5

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3493
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 296
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1241
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.264542235710673e-4
allele num: 7908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8710
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.383e0

VQSLOD
type: SiteQuality
SIO_000300: -1.376e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.961e0

DP
type: SiteQuality
SIO_000300: 5.67747e5

MQ
type: SiteQuality
SIO_000300: 5.591e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.12e-2

QD
type: SiteQuality
SIO_000300: 3.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.4e-1

GenotypeQuality
all individuals: 5799
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1766
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 104
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.730368968779565e-4
allele num: 2114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8738
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7894
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.37e-2

MQ
type: SiteQuality
SIO_000300: 6.072e1

QD
type: SiteQuality
SIO_000300: 6.34e0

MQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

FS
type: SiteQuality
SIO_000300: 2.963e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.633e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.63e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

VQSLOD
type: SiteQuality
SIO_000300: 4.6e-2

DP
type: SiteQuality
SIO_000300: 3.18023e5

GenotypeQuality
all individuals: 91
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.286236854138089e-4
allele num: 8748
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2110
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1458
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.105e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.27e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.81e-1

FS
type: SiteQuality
SIO_000300: 2.994e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.312e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.356e0

DP
type: SiteQuality
SIO_000300: 3.19261e5

GenotypeQuality
all individuals: 60
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6419
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 567
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8824
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2106
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.265502404454569e-4
allele num: 7902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.7e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.23e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.4e-3

QD
type: SiteQuality
SIO_000300: 1.265e1

DP
type: SiteQuality
SIO_000300: 3.24763e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.299e0

GenotypeQuality
all individuals: 52
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6470
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 382
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2104
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.131733816206428e-4
allele num: 8836
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.07e-1

FS
type: SiteQuality
SIO_000300: 8.009e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

DP
type: SiteQuality
SIO_000300: 3.25209e5

QD
type: SiteQuality
SIO_000300: 1.829e1

MQ
type: SiteQuality
SIO_000300: 5.925e1

VQSLOD
type: SiteQuality
SIO_000300: -1.129e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-1

GenotypeQuality
all individuals: 381
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
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GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
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GenotypeQuality
all individuals: 160
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
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variant carriers: 2

GenotypeQuality
all individuals: 44
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.124606387764283e-4
allele num: 8892
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1576
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.265502404454569e-4
allele num: 7902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2098
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.99e-1

QD
type: SiteQuality
SIO_000300: 1.174e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-1

FS
type: SiteQuality
SIO_000300: 2.344e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.08e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.05e0

DP
type: SiteQuality
SIO_000300: 3.2646e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

GenotypeQuality
all individuals: 555
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6495
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.129943502824859e-4
allele num: 8850
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.796e0

FS
type: SiteQuality
SIO_000300: 2.238e0

MQRankSum
type: SiteQuality
SIO_000300: 8.91e-1

DP
type: SiteQuality
SIO_000300: 3.25013e5

VQSLOD
type: SiteQuality
SIO_000300: -3.325e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.11e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

QD
type: SiteQuality
SIO_000300: 1.109e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 160
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1751
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.146526026140793e-4
allele num: 8722
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 364
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.521e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 1.793e0

VQSLOD
type: SiteQuality
SIO_000300: 7.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.65e-1

DP
type: SiteQuality
SIO_000300: 3.20238e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.23e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.97e-1

QD
type: SiteQuality
SIO_000300: 1.12e1