17-42266984-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42266984
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42266984
    reference: chr 17
allele count: 1
allele frequency: 9.519820265793382e-6
allele num: 105044
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*117+28C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.45+525C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*124+28C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.253+317C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.219+28C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.253+317C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*117+28C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.602+28C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.542+28C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.253+317C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467960
  ensembl transcript: ENST00000589856
  gene symbol: TMUB2
  hgvsc: ENST00000589856.1:c.*24C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.602+28C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.542+28C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.431+28C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.542+28C>T
  variant of: http://identifiers.org/hgnc/28459
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25456
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7966
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4069
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

17-42266992-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42266992
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42266992
    reference: chr 17
allele count: 1
allele frequency: 9.643387529171248e-6
allele num: 103698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.45+533C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*124+36C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.431+36C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.253+325C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.602+36C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.253+325C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.602+36C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.542+36C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.253+325C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.219+36C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.542+36C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467960
  ensembl transcript: ENST00000589856
  gene symbol: TMUB2
  hgvsc: ENST00000589856.1:c.*32C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.542+36C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*117+36C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*117+36C>T
  variant of: http://identifiers.org/hgnc/28459
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

17-42266997-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42266997
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42266997
    reference: chr 17
allele count: 2
allele frequency: 1.94325689856199e-5
allele num: 102920
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.253+330C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.253+330C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467960
  ensembl transcript: ENST00000589856
  gene symbol: TMUB2
  hgvsc: ENST00000589856.1:c.*37C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.45+538C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.602+41C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*117+41C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.542+41C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*124+41C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*117+41C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.219+41C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.542+41C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.253+330C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.431+41C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.542+41C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.602+41C>G
  variant of: http://identifiers.org/hgnc/28459
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7598
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-42266999-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42266999
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42266999
    reference: chr 17
allele count: 1
allele frequency: 9.750199879097521e-6
allele num: 102562
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.542+43C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*124+43C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.542+43C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.253+332C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.431+43C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*117+43C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.253+332C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.542+43C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.219+43C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467960
  ensembl transcript: ENST00000589856
  gene symbol: TMUB2
  hgvsc: ENST00000589856.1:c.*39C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*117+43C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.45+540C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.602+43C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.602+43C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.253+332C>G
  variant of: http://identifiers.org/hgnc/28459
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8924
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4342
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

17-42267003-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267003
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267003
    reference: chr 17
allele count: 2
allele frequency: 1.971764334726713e-5
allele num: 101432
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*124+47C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.219+47C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*117+47C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.253+336C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.542+47C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467960
  ensembl transcript: ENST00000589856
  gene symbol: TMUB2
  hgvsc: ENST00000589856.1:c.*43C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.602+47C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.431+47C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.253+336C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.253+336C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.542+47C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.542+47C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*117+47C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.45+544C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.602+47C>T
  variant of: http://identifiers.org/hgnc/28459
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6519
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-42267828-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267828
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267828
    reference: chr 17
allele count: 1
allele frequency: 9.20589914016902e-6
allele num: 108626
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.543-41C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*118-41C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.254-41C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.220-41C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*125-41C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.254-41C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.603-41C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.432-41C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.46-41C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*118-41C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.543-41C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.254-41C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.543-41C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.603-41C>G
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5953
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9242
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

17-42267830-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267830
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267830
    reference: chr 17
allele count: 1
allele frequency: 9.203865623561896e-6
allele num: 108650
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.543-39C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.254-39C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.603-39C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.543-39C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.543-39C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*118-39C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.254-39C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.220-39C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.46-39C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*125-39C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.603-39C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*118-39C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.254-39C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.432-39C>G
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD

17-42267833-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267833
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267833
    reference: chr 17
allele count: 1
allele frequency: 9.197262894562578e-6
allele num: 108728
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.432-36C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*118-36C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.543-36C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.254-36C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.254-36C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.220-36C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*118-36C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.543-36C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.46-36C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.543-36C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.254-36C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.603-36C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.603-36C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*125-36C>T
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9097
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

17-42267834-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267834
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267834
    reference: chr 17
allele count: 88
allele frequency: 8.089871113644303e-4
allele num: 108778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.543-35C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.46-35C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.254-35C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.543-35C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.603-35C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.254-35C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.220-35C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.603-35C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.254-35C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.432-35C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*118-35C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*118-35C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*125-35C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.543-35C>T
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9368
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9103
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 6189
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 3
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

17-42267836-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267836
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267837
    reference: chr 17
allele count: 1
allele frequency: 9.188642837452908e-6
allele num: 108830
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.543-32dupT
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.46-32dupT
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.603-32dupT
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.432-32dupT
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*118-32dupT
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.254-32dupT
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.543-32dupT
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.543-32dupT
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.603-32dupT
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.220-32dupT
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.254-32dupT
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*118-32dupT
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*125-32dupT
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.254-32dupT
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

17-42267838-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267838
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267838
    reference: chr 17
allele count: 1
allele frequency: 9.186954524575103e-6
allele num: 108850
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.432-31A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*118-31A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.603-31A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.543-31A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.603-31A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.254-31A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*125-31A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*118-31A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.220-31A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.46-31A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.543-31A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.254-31A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.543-31A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.254-31A>G
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-42267838-ATCTTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267838
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267833
    reference: chr 17
allele count: 1
allele frequency: 9.186954524575103e-6
allele num: 108850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.543-26_543-22delTTCTT
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.46-26_46-22delTTCTT
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.603-26_603-22delTTCTT
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*118-26_*118-22delTTCTT
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.543-26_543-22delTTCTT
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.254-26_254-22delTTCTT
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*125-26_*125-22delTTCTT
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.543-26_543-22delTTCTT
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*118-26_*118-22delTTCTT
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.254-26_254-22delTTCTT
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.603-26_603-22delTTCTT
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.254-26_254-22delTTCTT
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.220-26_220-22delTTCTT
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.432-26_432-22delTTCTT
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9114
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: ATCTTT
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

17-42267839-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267839
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267839
    reference: chr 17
allele count: 1
allele frequency: 9.181893306399779e-6
allele num: 108910
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.543-30T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.220-30T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*118-30T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.603-30T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.254-30T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.46-30T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.543-30T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*125-30T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.603-30T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.543-30T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*118-30T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.432-30T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.254-30T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.254-30T>C
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

17-42267845-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267845
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267845
    reference: chr 17
allele count: 4
allele frequency: 3.665084571826495e-5
allele num: 109138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.254-24C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*118-24C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.254-24C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.543-24C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.46-24C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.220-24C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.543-24C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.603-24C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.432-24C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.603-24C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.254-24C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*125-24C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.543-24C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*118-24C>T
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6517
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-42267850-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267850
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267850
    reference: chr 17
allele count: 2
allele frequency: 1.823752553253574e-5
allele num: 109664
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.46-19A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.254-19A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.603-19A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.543-19A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*118-19A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.543-19A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.543-19A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*118-19A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.603-19A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.254-19A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.220-19A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.254-19A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.432-19A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*125-19A>G
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

17-42267851-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267851
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267851
    reference: chr 17
allele count: 5
allele frequency: 4.554563672800146e-5
allele num: 109780
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.254-18T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.543-18T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.254-18T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.254-18T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*118-18T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*125-18T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*118-18T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.46-18T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.220-18T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.603-18T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.603-18T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.432-18T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.543-18T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.543-18T>C
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6524
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10867
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

17-42267852-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267852
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267852
    reference: chr 17
allele count: 3
allele frequency: 2.730748225013654e-5
allele num: 109860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.543-17G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*118-17G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.46-17G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.254-17G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.254-17G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.543-17G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.432-17G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.254-17G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.603-17G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.543-17G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*125-17G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.220-17G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*118-17G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.603-17G>A
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9820
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

17-42267853-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267853
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267853
    reference: chr 17
allele count: 1
allele frequency: 9.092396937680711e-6
allele num: 109982
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.543-16T>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.603-16T>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.254-16T>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.432-16T>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*118-16T>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*118-16T>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.254-16T>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.254-16T>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.603-16T>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.220-16T>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.46-16T>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*125-16T>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.543-16T>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.543-16T>G
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10902
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4081
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

17-42267862-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267862
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267862
    reference: chr 17
allele count: 1
allele frequency: 9.01079493232893e-6
allele num: 110978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.46-7C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*118-7C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.543-7C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*118-7C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*125-7C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.603-7C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.254-7C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.543-7C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.543-7C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.254-7C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.220-7C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.603-7C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.432-7C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.254-7C>T
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.603-7C>T
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

17-42267866-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267866
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267866
    reference: chr 17
allele count: 1
allele frequency: 8.969253399347038e-6
allele num: 111492
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*118-3C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.46-3C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.254-3C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.543-3C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.254-3C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.603-3C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*118-3C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.220-3C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.543-3C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.254-3C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.432-3C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*125-3C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.603-3C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.543-3C>T
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.603-3C>T
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-42267868-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267868
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267868
    reference: chr 17
allele count: 1
allele frequency: 8.945183912981251e-6
allele num: 111792
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.603-1G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.543-1G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.254-1G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.254-1G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*118-1G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*125-1G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.432-1G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.46-1G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.254-1G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*118-1G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.543-1G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.543-1G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.603-1G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.220-1G>A
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.603-1G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP

17-42267876-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267876
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267876
    reference: chr 17
allele count: 1
allele frequency: 8.843766029325928e-6
allele num: 113074
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.550T>C
  hgvsp: ENSP00000350672.3:p.Phe184Leu
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*132T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.610T>C
  hgvsp: ENSP00000466971.1:p.Phe204Leu
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*125T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.610T>C
  hgvsp: ENSP00000444565.1:p.Phe204Leu
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.439T>C
  hgvsp: ENSP00000413127.2:p.Phe147Leu
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.550T>C
  hgvsp: ENSP00000313214.5:p.Phe184Leu
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.261T>C
  hgvsp: ENST00000587172.1:c.261T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.261T>C
  hgvsp: ENST00000592825.1:c.261T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.227T>C
  hgvsp: ENSP00000465810.1:p.Phe77Leu
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*125T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.53T>C
  hgvsp: ENSP00000468765.1:p.Leu18Pro
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.261T>C
  hgvsp: ENST00000590235.1:c.261T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.550T>C
  hgvsp: ENSP00000467364.1:p.Phe184Leu
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe204Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

17-42267881-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267881
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267881
    reference: chr 17
allele count: 1
allele frequency: 8.75871492134674e-6
allele num: 114172
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.232T>C
  hgvsp: ENST00000587630.1:c.232T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.555T>C
  hgvsp: ENST00000357984.3:c.555T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.555T>C
  hgvsp: ENST00000319511.6:c.555T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*130T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*130T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.555T>C
  hgvsp: ENST00000589785.1:c.555T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.615T>C
  hgvsp: ENST00000587989.1:c.615T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.58T>C
  hgvsp: ENSP00000468765.1:p.Trp20Arg
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.266T>C
  hgvsp: ENSP00000465015.1:p.Leu89Pro
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.266T>C
  hgvsp: ENSP00000465153.1:p.Leu89Pro
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.444T>C
  hgvsp: ENST00000446571.3:c.444T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*137T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.615T>C
  hgvsp: ENST00000538716.2:c.615T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.266T>C
  hgvsp: ENSP00000466189.1:p.Leu89Pro
  variant of: http://identifiers.org/hgnc/28459
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp20Arg
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-42267885-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267885
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267885
    reference: chr 17
allele count: 1
allele frequency: 8.702614265325304e-6
allele num: 114908
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.270C>A
  hgvsp: ENSP00000466189.1:p.Asp90Glu
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.236C>A
  hgvsp: ENSP00000465810.1:p.Gln80Lys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*141C>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.559C>A
  hgvsp: ENSP00000467364.1:p.Gln187Lys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.62C>A
  hgvsp: ENSP00000468765.1:p.Thr21Lys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.619C>A
  hgvsp: ENSP00000444565.1:p.Gln207Lys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.448C>A
  hgvsp: ENSP00000413127.2:p.Gln150Lys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*134C>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*134C>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.270C>A
  hgvsp: ENSP00000465153.1:p.Asp90Glu
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.559C>A
  hgvsp: ENSP00000313214.5:p.Gln187Lys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.270C>A
  hgvsp: ENSP00000465015.1:p.Asp90Glu
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.619C>A
  hgvsp: ENSP00000466971.1:p.Gln207Lys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.559C>A
  hgvsp: ENSP00000350672.3:p.Gln187Lys
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln207Lys
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-42267886-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267886
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267886
    reference: chr 17
allele count: 1
allele frequency: 8.669267446900737e-6
allele num: 115350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.620A>C
  hgvsp: ENSP00000444565.1:p.Gln207Pro
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.237A>C
  hgvsp: ENSP00000465810.1:p.Gln80Pro
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*135A>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*135A>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.63A>C
  hgvsp: ENST00000589184.1:c.63A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.560A>C
  hgvsp: ENSP00000467364.1:p.Gln187Pro
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.560A>C
  hgvsp: ENSP00000313214.5:p.Gln187Pro
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.620A>C
  hgvsp: ENSP00000466971.1:p.Gln207Pro
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.449A>C
  hgvsp: ENSP00000413127.2:p.Gln150Pro
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.271A>C
  hgvsp: ENSP00000466189.1:p.Lys91Gln
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*142A>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.271A>C
  hgvsp: ENSP00000465015.1:p.Lys91Gln
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.271A>C
  hgvsp: ENSP00000465153.1:p.Lys91Gln
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.560A>C
  hgvsp: ENSP00000350672.3:p.Gln187Pro
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln207Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

17-42267892-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267892
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267892
    reference: chr 17
allele count: 2
allele frequency: 1.719660882873897e-5
allele num: 116302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.243G>A
  hgvsp: ENSP00000465810.1:p.Ser82Asn
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.277G>A
  hgvsp: ENSP00000466189.1:p.Ala93Thr
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*148G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*141G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.566G>A
  hgvsp: ENSP00000350672.3:p.Ser189Asn
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*141G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.277G>A
  hgvsp: ENSP00000465153.1:p.Ala93Thr
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.566G>A
  hgvsp: ENSP00000313214.5:p.Ser189Asn
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.626G>A
  hgvsp: ENSP00000466971.1:p.Ser209Asn
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.277G>A
  hgvsp: ENSP00000465015.1:p.Ala93Thr
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.626G>A
  hgvsp: ENSP00000444565.1:p.Ser209Asn
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.455G>A
  hgvsp: ENSP00000413127.2:p.Ser152Asn
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.69G>A
  hgvsp: ENST00000589184.1:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.566G>A
  hgvsp: ENSP00000467364.1:p.Ser189Asn
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser209Asn
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

17-42267893-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267893
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267893
    reference: chr 17
allele count: 5
allele frequency: 4.295754076670619e-5
allele num: 116394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.567C>T
  hgvsp: ENST00000357984.3:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.627C>T
  hgvsp: ENST00000538716.2:c.627C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.456C>T
  hgvsp: ENST00000446571.3:c.456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.567C>T
  hgvsp: ENST00000589785.1:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.70C>T
  hgvsp: ENSP00000468765.1:p.Pro24Ser
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.567C>T
  hgvsp: ENST00000319511.6:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.278C>T
  hgvsp: ENSP00000466189.1:p.Ala93Val
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.627C>T
  hgvsp: ENST00000587989.1:c.627C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.278C>T
  hgvsp: ENSP00000465153.1:p.Ala93Val
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.278C>T
  hgvsp: ENSP00000465015.1:p.Ala93Val
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*142C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*142C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*149C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.244C>T
  hgvsp: ENST00000587630.1:c.244C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9270
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11486
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro24Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

17-42267905-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267905
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267905
    reference: chr 17
allele count: 1
allele frequency: 8.449656943928076e-6
allele num: 118348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.256G>T
  hgvsp: ENST00000587630.1:c.256G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*154G>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*5G>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.579G>T
  hgvsp: ENST00000357984.3:c.579G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.82G>T
  hgvsp: ENSP00000468765.1:p.Asp28Tyr
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.579G>T
  hgvsp: ENST00000319511.6:c.579G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.639G>T
  hgvsp: ENST00000587989.1:c.639G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.468G>T
  hgvsp: ENST00000446571.3:c.468G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.579G>T
  hgvsp: ENST00000589785.1:c.579G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.639G>T
  hgvsp: ENST00000538716.2:c.639G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*5G>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*154G>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*5G>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*161G>T
  variant of: http://identifiers.org/hgnc/28459
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp28Tyr
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

17-42267908-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267908
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267908
    reference: chr 17
allele count: 2
allele frequency: 1.685402726981612e-5
allele num: 118666
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*157C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.582C>G
  hgvsp: ENSP00000313214.5:p.Ile194Met
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*157C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*8C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.85C>G
  hgvsp: ENSP00000468765.1:p.Leu29Val
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.642C>G
  hgvsp: ENSP00000444565.1:p.Ile214Met
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.582C>G
  hgvsp: ENSP00000467364.1:p.Ile194Met
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.259C>G
  hgvsp: ENSP00000465810.1:p.Ile87Met
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.582C>G
  hgvsp: ENSP00000350672.3:p.Ile194Met
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*8C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.471C>G
  hgvsp: ENSP00000413127.2:p.Ile157Met
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*8C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.642C>G
  hgvsp: ENSP00000466971.1:p.Ile214Met
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*164C>G
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile214Met
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

17-42267915-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267915
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267915
    reference: chr 17
allele count: 2
allele frequency: 1.670927531872943e-5
allele num: 119694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.589G>T
  hgvsp: ENSP00000350672.3:p.Gly197Cys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.649G>T
  hgvsp: ENSP00000444565.1:p.Gly217Cys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.589G>T
  hgvsp: ENSP00000313214.5:p.Gly197Cys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.649G>T
  hgvsp: ENSP00000466971.1:p.Gly217Cys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*164G>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*15G>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.589G>T
  hgvsp: ENSP00000467364.1:p.Gly197Cys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.478G>T
  hgvsp: ENSP00000413127.2:p.Gly160Cys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.92G>T
  hgvsp: ENSP00000468765.1:p.Gly31Val
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.266G>T
  hgvsp: ENSP00000465810.1:p.Gly90Cys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*15G>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*15G>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*164G>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*171G>T
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9320
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly217Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

17-42267919-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267919
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267919
    reference: chr 17
allele count: 5
allele frequency: 4.159180142410328e-5
allele num: 120216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*168G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.96G>A
  hgvsp: ENST00000589184.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.653G>A
  hgvsp: ENSP00000466971.1:p.Arg218His
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*168G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.593G>A
  hgvsp: ENSP00000467364.1:p.Arg198His
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.593G>A
  hgvsp: ENSP00000350672.3:p.Arg198His
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.482G>A
  hgvsp: ENSP00000413127.2:p.Arg161His
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.593G>A
  hgvsp: ENSP00000313214.5:p.Arg198His
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.653G>A
  hgvsp: ENSP00000444565.1:p.Arg218His
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.270G>A
  hgvsp: ENSP00000465810.1:p.Arg91His
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*19G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*19G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*175G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*19G>A
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11323
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg218His
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

17-42267919-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267919
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267919
    reference: chr 17
allele count: 1
allele frequency: 8.318360284820657e-6
allele num: 120216
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.593G>T
  hgvsp: ENSP00000313214.5:p.Arg198Leu
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.482G>T
  hgvsp: ENSP00000413127.2:p.Arg161Leu
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.593G>T
  hgvsp: ENSP00000467364.1:p.Arg198Leu
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465152
  ensembl transcript: ENST00000587775
  gene symbol: TMUB2
  hgvsc: ENST00000587775.1:c.*168G>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.653G>T
  hgvsp: ENSP00000444565.1:p.Arg218Leu
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*175G>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*19G>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.593G>T
  hgvsp: ENSP00000350672.3:p.Arg198Leu
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.96G>T
  hgvsp: ENST00000589184.1:c.96G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.653G>T
  hgvsp: ENSP00000466971.1:p.Arg218Leu
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.270G>T
  hgvsp: ENSP00000465810.1:p.Arg91Leu
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*168G>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*19G>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*19G>T
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg218Leu
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-42267923-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267923
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267923
    reference: chr 17
allele count: 1
allele frequency: 8.293799555452344e-6
allele num: 120572
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*179G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.597G>A
  hgvsp: ENST00000357984.3:c.597G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.597G>A
  hgvsp: ENST00000319511.6:c.597G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.100G>A
  hgvsp: ENSP00000468765.1:p.Ala34Thr
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*23G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*23G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*23G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.597G>A
  hgvsp: ENST00000589785.1:c.597G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.486G>A
  hgvsp: ENST00000446571.3:c.486G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.274G>A
  hgvsp: ENST00000587630.1:c.274G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.657G>A
  hgvsp: ENST00000587989.1:c.657G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*172G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.657G>A
  hgvsp: ENST00000538716.2:c.657G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala34Thr
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

17-42267926-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267926
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267926
    reference: chr 17
allele count: 1
allele frequency: 8.282122210995345e-6
allele num: 120742
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*26A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.489A>G
  hgvsp: ENST00000446571.3:c.489A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*175A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*26A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.277A>G
  hgvsp: ENST00000587630.1:c.277A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*26A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.600A>G
  hgvsp: ENST00000319511.6:c.600A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.600A>G
  hgvsp: ENST00000589785.1:c.600A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.660A>G
  hgvsp: ENST00000538716.2:c.660A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*182A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.600A>G
  hgvsp: ENST00000357984.3:c.600A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.103A>G
  hgvsp: ENSP00000468765.1:p.Thr35Ala
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.660A>G
  hgvsp: ENST00000587989.1:c.660A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr35Ala
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD

17-42267928-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267928
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267928
    reference: chr 17
allele count: 1
allele frequency: 8.275131574592036e-6
allele num: 120844
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.602A>G
  hgvsp: ENSP00000313214.5:p.Gln201Arg
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.279A>G
  hgvsp: ENSP00000465810.1:p.Gln94Arg
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*184A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.662A>G
  hgvsp: ENSP00000444565.1:p.Gln221Arg
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.602A>G
  hgvsp: ENSP00000467364.1:p.Gln201Arg
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.602A>G
  hgvsp: ENSP00000350672.3:p.Gln201Arg
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.105A>G
  hgvsp: ENST00000589184.1:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*28A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.662A>G
  hgvsp: ENSP00000466971.1:p.Gln221Arg
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*177A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*28A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*28A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.491A>G
  hgvsp: ENSP00000413127.2:p.Gln164Arg
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln221Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

17-42267939-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267939
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267939
    reference: chr 17
allele count: 2
allele frequency: 1.650818806127839e-5
allele num: 121152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*188C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.502C>T
  hgvsp: ENSP00000413127.2:p.Arg168Cys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*39C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.613C>T
  hgvsp: ENSP00000350672.3:p.Arg205Cys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.613C>T
  hgvsp: ENSP00000467364.1:p.Arg205Cys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.613C>T
  hgvsp: ENSP00000313214.5:p.Arg205Cys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*39C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.673C>T
  hgvsp: ENSP00000444565.1:p.Arg225Cys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.116C>T
  hgvsp: ENSP00000468765.1:p.Pro39Leu
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.290C>T
  hgvsp: ENSP00000465810.1:p.Arg98Cys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*195C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.673C>T
  hgvsp: ENSP00000466971.1:p.Arg225Cys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*39C>T
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg225Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

17-42267940-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267940
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267940
    reference: chr 17
allele count: 2
allele frequency: 1.650437365901964e-5
allele num: 121180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*40G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.614G>A
  hgvsp: ENSP00000350672.3:p.Arg205His
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.614G>A
  hgvsp: ENSP00000467364.1:p.Arg205His
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.674G>A
  hgvsp: ENSP00000444565.1:p.Arg225His
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*40G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.674G>A
  hgvsp: ENSP00000466971.1:p.Arg225His
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.117G>A
  hgvsp: ENST00000589184.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.291G>A
  hgvsp: ENSP00000465810.1:p.Arg98His
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*40G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*189G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.503G>A
  hgvsp: ENSP00000413127.2:p.Arg168His
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.614G>A
  hgvsp: ENSP00000313214.5:p.Arg205His
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*196G>A
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6712
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg225His
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-42267947-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267947
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267947
    reference: chr 17
allele count: 2
allele frequency: 1.649130908011478e-5
allele num: 121276
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*47G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*47G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.681G>A
  hgvsp: ENST00000538716.2:c.681G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*196G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.510G>A
  hgvsp: ENST00000446571.3:c.510G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.621G>A
  hgvsp: ENST00000589785.1:c.621G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.124G>A
  hgvsp: ENSP00000468765.1:p.Ala42Thr
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.681G>A
  hgvsp: ENST00000587989.1:c.681G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.621G>A
  hgvsp: ENST00000357984.3:c.621G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*203G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.298G>A
  hgvsp: ENST00000587630.1:c.298G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.621G>A
  hgvsp: ENST00000319511.6:c.621G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*47G>A
  variant of: http://identifiers.org/hgnc/28459
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala42Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum

17-42267948-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267948
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267948
    reference: chr 17
allele count: 2
allele frequency: 1.649076517150396e-5
allele num: 121280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.682C>T
  hgvsp: ENSP00000444565.1:p.Arg228Cys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.622C>T
  hgvsp: ENSP00000467364.1:p.Arg208Cys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.682C>T
  hgvsp: ENSP00000466971.1:p.Arg228Cys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.622C>T
  hgvsp: ENSP00000350672.3:p.Arg208Cys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.511C>T
  hgvsp: ENSP00000413127.2:p.Arg171Cys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*48C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*204C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*48C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*197C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.622C>T
  hgvsp: ENSP00000313214.5:p.Arg208Cys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.125C>T
  hgvsp: ENSP00000468765.1:p.Ala42Val
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.299C>T
  hgvsp: ENSP00000465810.1:p.Arg101Cys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*48C>T
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9446
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg228Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

17-42267949-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267949
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267949
    reference: chr 17
allele count: 2313
allele frequency: 1.907125542124965e-2
allele num: 121282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.623G>A
  hgvsp: ENSP00000467364.1:p.Arg208His
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*49G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.683G>A
  hgvsp: ENSP00000444565.1:p.Arg228His
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.126G>A
  hgvsp: ENST00000589184.1:c.126G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.683G>A
  hgvsp: ENSP00000466971.1:p.Arg228His
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.300G>A
  hgvsp: ENSP00000465810.1:p.Arg101His
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.623G>A
  hgvsp: ENSP00000313214.5:p.Arg208His
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.623G>A
  hgvsp: ENSP00000350672.3:p.Arg208His
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*49G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*198G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*205G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*49G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.512G>A
  hgvsp: ENSP00000413127.2:p.Arg171His
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9137
  bin: 3.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 10182
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 254
genotype depth: GenotypeDepth
  all individuals: 6516
  bin: 4.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 5.25e1
  variant carriers: 163
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 11267
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.25e1
  variant carriers: 206
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11747
  bin: 3.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
hgvs: p.Arg228His
num of homozygotes: 72
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

17-42267949-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267949
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267949
    reference: chr 17
allele count: 3
allele frequency: 2.473573984597879e-5
allele num: 121282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.512G>C
  hgvsp: ENSP00000413127.2:p.Arg171Pro
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*49G>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.623G>C
  hgvsp: ENSP00000467364.1:p.Arg208Pro
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.300G>C
  hgvsp: ENSP00000465810.1:p.Arg101Pro
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.126G>C
  hgvsp: ENST00000589184.1:c.126G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.623G>C
  hgvsp: ENSP00000313214.5:p.Arg208Pro
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.683G>C
  hgvsp: ENSP00000444565.1:p.Arg228Pro
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*198G>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.683G>C
  hgvsp: ENSP00000466971.1:p.Arg228Pro
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*49G>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*205G>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.623G>C
  hgvsp: ENSP00000350672.3:p.Arg208Pro
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*49G>C
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg228Pro
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

17-42267954-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267954
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267954
    reference: chr 17
allele count: 53
allele frequency: 4.368467904124493e-4
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.517C>T
  hgvsp: ENST00000446571.3:c.517C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.131C>T
  hgvsp: ENSP00000468765.1:p.Ser44Phe
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.688C>T
  hgvsp: ENST00000587989.1:c.688C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.688C>T
  hgvsp: ENST00000538716.2:c.688C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.628C>T
  hgvsp: ENST00000319511.6:c.628C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.628C>T
  hgvsp: ENST00000357984.3:c.628C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*54C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.628C>T
  hgvsp: ENST00000589785.1:c.628C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*203C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*210C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.305C>T
  hgvsp: ENST00000587630.1:c.305C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*54C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*54C>T
  variant of: http://identifiers.org/hgnc/28459
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6529
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9165
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11817
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Ser44Phe
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/17-42267959-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267959
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267959
    reference: chr 17
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*59C>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.633C>A
  hgvsp: ENSP00000467364.1:p.Asn211Lys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.136C>A
  hgvsp: ENSP00000468765.1:p.His46Asn
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.633C>A
  hgvsp: ENSP00000313214.5:p.Asn211Lys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.633C>A
  hgvsp: ENSP00000350672.3:p.Asn211Lys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*59C>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*215C>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.310C>A
  hgvsp: ENSP00000465810.1:p.Asn104Lys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*59C>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.693C>A
  hgvsp: ENSP00000444565.1:p.Asn231Lys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*208C>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.522C>A
  hgvsp: ENSP00000413127.2:p.Asn174Lys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.693C>A
  hgvsp: ENSP00000466971.1:p.Asn231Lys
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9167
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10202
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn231Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

17-42267961-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267961
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267961
    reference: chr 17
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.138T>C
  hgvsp: ENST00000589184.1:c.138T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.312T>C
  hgvsp: ENSP00000465810.1:p.Ile105Thr
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.695T>C
  hgvsp: ENSP00000444565.1:p.Ile232Thr
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.524T>C
  hgvsp: ENSP00000413127.2:p.Ile175Thr
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.635T>C
  hgvsp: ENSP00000313214.5:p.Ile212Thr
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.695T>C
  hgvsp: ENSP00000466971.1:p.Ile232Thr
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*210T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.635T>C
  hgvsp: ENSP00000350672.3:p.Ile212Thr
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.635T>C
  hgvsp: ENSP00000467364.1:p.Ile212Thr
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*61T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*217T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*61T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*61T>C
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile232Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

17-42267965-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267965
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267965
    reference: chr 17
allele count: 17
allele frequency: 1.400721783695599e-4
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.699C>T
  hgvsp: ENST00000587989.1:c.699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.316C>T
  hgvsp: ENST00000587630.1:c.316C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.639C>T
  hgvsp: ENST00000589785.1:c.639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.639C>T
  hgvsp: ENST00000319511.6:c.639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*65C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.528C>T
  hgvsp: ENST00000446571.3:c.528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.142C>T
  hgvsp: ENSP00000468765.1:p.Arg48Ter
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*221C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.639C>T
  hgvsp: ENST00000357984.3:c.639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*65C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*214C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.699C>T
  hgvsp: ENST00000538716.2:c.699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*65C>T
  variant of: http://identifiers.org/hgnc/28459
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg48Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum

17-42267966-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267966
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267966
    reference: chr 17
allele count: 11
allele frequency: 9.063344538922946e-5
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*66G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.317G>A
  hgvsp: ENSP00000465810.1:p.Asp107Asn
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.700G>A
  hgvsp: ENSP00000466971.1:p.Asp234Asn
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*66G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.640G>A
  hgvsp: ENSP00000313214.5:p.Asp214Asn
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.640G>A
  hgvsp: ENSP00000467364.1:p.Asp214Asn
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*215G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.640G>A
  hgvsp: ENSP00000350672.3:p.Asp214Asn
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*222G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.143G>A
  hgvsp: ENSP00000468765.1:p.Arg48Gln
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*66G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.700G>A
  hgvsp: ENSP00000444565.1:p.Asp234Asn
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.529G>A
  hgvsp: ENSP00000413127.2:p.Asp177Asn
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11828
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asp234Asn
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: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

17-42267975-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267975
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267975
    reference: chr 17
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*75G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.326G>A
  hgvsp: ENSP00000465810.1:p.Val110Met
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.709G>A
  hgvsp: ENSP00000466971.1:p.Val237Met
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.538G>A
  hgvsp: ENSP00000413127.2:p.Val180Met
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*75G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*75G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.152G>A
  hgvsp: ENSP00000468765.1:p.Cys51Tyr
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.709G>A
  hgvsp: ENSP00000444565.1:p.Val237Met
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.649G>A
  hgvsp: ENSP00000467364.1:p.Val217Met
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.649G>A
  hgvsp: ENSP00000313214.5:p.Val217Met
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*231G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*224G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.649G>A
  hgvsp: ENSP00000350672.3:p.Val217Met
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val237Met
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

17-42267983-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267983
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267983
    reference: chr 17
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.160C>T
  hgvsp: ENST00000589184.1:c.160C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.717C>T
  hgvsp: ENST00000538716.2:c.717C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*83C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.717C>T
  hgvsp: ENST00000587989.1:c.717C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.657C>T
  hgvsp: ENST00000319511.6:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.334C>T
  hgvsp: ENST00000587630.1:c.334C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.546C>T
  hgvsp: ENST00000446571.3:c.546C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.657C>T
  hgvsp: ENST00000357984.3:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*232C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.657C>T
  hgvsp: ENST00000589785.1:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*83C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*239C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*83C>T
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His239His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

17-42267990-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267990
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267990
    reference: chr 17
allele count: 5
allele frequency: 4.118819711023609e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*239C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.664C>T
  hgvsp: ENSP00000313214.5:p.Arg222Cys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.724C>T
  hgvsp: ENSP00000466971.1:p.Arg242Cys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.724C>T
  hgvsp: ENSP00000444565.1:p.Arg242Cys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.553C>T
  hgvsp: ENSP00000413127.2:p.Arg185Cys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.341C>T
  hgvsp: ENSP00000465810.1:p.Arg115Cys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*246C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*90C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.167C>T
  hgvsp: ENSP00000468765.1:p.Pro56Leu
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.664C>T
  hgvsp: ENSP00000467364.1:p.Arg222Cys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*90C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*90C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.664C>T
  hgvsp: ENSP00000350672.3:p.Arg222Cys
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Arg242Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

17-42267991-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267991
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267991
    reference: chr 17
allele count: 3
allele frequency: 2.471251112063001e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*91G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.725G>A
  hgvsp: ENSP00000444565.1:p.Arg242His
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.342G>A
  hgvsp: ENSP00000465810.1:p.Arg115His
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.168G>A
  hgvsp: ENST00000589184.1:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.725G>A
  hgvsp: ENSP00000466971.1:p.Arg242His
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.554G>A
  hgvsp: ENSP00000413127.2:p.Arg185His
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.665G>A
  hgvsp: ENSP00000350672.3:p.Arg222His
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*91G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.665G>A
  hgvsp: ENSP00000313214.5:p.Arg222His
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.665G>A
  hgvsp: ENSP00000467364.1:p.Arg222His
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*91G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*247G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*240G>A
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11834
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg242His
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

17-42267995-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267995
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267995
    reference: chr 17
allele count: 7
allele frequency: 5.766632616074076e-5
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*95A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*244A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.729A>G
  hgvsp: ENST00000587989.1:c.729A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*95A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.172A>G
  hgvsp: ENSP00000468765.1:p.Thr58Ala
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.669A>G
  hgvsp: ENST00000319511.6:c.669A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*95A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.669A>G
  hgvsp: ENST00000589785.1:c.669A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.729A>G
  hgvsp: ENST00000538716.2:c.729A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*251A>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.558A>G
  hgvsp: ENST00000446571.3:c.558A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.346A>G
  hgvsp: ENST00000587630.1:c.346A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.669A>G
  hgvsp: ENST00000357984.3:c.669A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Thr58Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD

17-42267999-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42267999
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42267999
    reference: chr 17
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.673C>T
  hgvsp: ENSP00000467364.1:p.Pro225Ser
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*99C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*99C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.673C>T
  hgvsp: ENSP00000350672.3:p.Pro225Ser
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.673C>T
  hgvsp: ENSP00000313214.5:p.Pro225Ser
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.733C>T
  hgvsp: ENSP00000466971.1:p.Pro245Ser
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*248C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.562C>T
  hgvsp: ENSP00000413127.2:p.Pro188Ser
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.350C>T
  hgvsp: ENSP00000465810.1:p.Pro118Ser
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*99C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.733C>T
  hgvsp: ENSP00000444565.1:p.Pro245Ser
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.176C>T
  hgvsp: ENSP00000468765.1:p.Pro59Leu
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*255C>T
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro245Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

17-42268002-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42268002
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42268002
    reference: chr 17
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*102G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.676G>A
  hgvsp: ENSP00000313214.5:p.Gly226Arg
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*102G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.736G>A
  hgvsp: ENSP00000466971.1:p.Gly246Arg
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.676G>A
  hgvsp: ENSP00000467364.1:p.Gly226Arg
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.179G>A
  hgvsp: ENSP00000468765.1:p.Arg60Lys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*258G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*251G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.565G>A
  hgvsp: ENSP00000413127.2:p.Gly189Arg
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.676G>A
  hgvsp: ENSP00000350672.3:p.Gly226Arg
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.736G>A
  hgvsp: ENSP00000444565.1:p.Gly246Arg
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.353G>A
  hgvsp: ENSP00000465810.1:p.Gly119Arg
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*102G>A
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly246Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-42268007-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42268007
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42268007
    reference: chr 17
allele count: 775
allele frequency: 6.384065372829418e-3
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.184A>T
  hgvsp: ENSP00000468765.1:p.Ser62Cys
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.741A>T
  hgvsp: ENST00000587989.1:c.741A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*256A>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.681A>T
  hgvsp: ENST00000319511.6:c.681A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.570A>T
  hgvsp: ENST00000446571.3:c.570A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.741A>T
  hgvsp: ENST00000538716.2:c.741A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.358A>T
  hgvsp: ENST00000587630.1:c.358A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.681A>T
  hgvsp: ENST00000589785.1:c.681A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*107A>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*263A>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*107A>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*107A>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.681A>T
  hgvsp: ENST00000357984.3:c.681A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 5.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 3913
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9976
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 6.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 9.75e1
  variant carriers: 337
genotype quality: GenotypeQuality
hgvs: p.Ser62Cys
num of homozygotes: 28
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

17-42268019-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42268019
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42268019
    reference: chr 17
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.753C>G
  hgvsp: ENST00000538716.2:c.753C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.370C>G
  hgvsp: ENST00000587630.1:c.370C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*268C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.693C>G
  hgvsp: ENST00000589785.1:c.693C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.753C>G
  hgvsp: ENST00000587989.1:c.753C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.196C>G
  hgvsp: ENSP00000468765.1:p.Pro66Ala
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.582C>G
  hgvsp: ENST00000446571.3:c.582C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*119C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.693C>G
  hgvsp: ENST00000357984.3:c.693C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.693C>G
  hgvsp: ENST00000319511.6:c.693C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*119C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*275C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*119C>G
  variant of: http://identifiers.org/hgnc/28459
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro66Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-42268019-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42268019
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42268019
    reference: chr 17
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.196C>T
  hgvsp: ENSP00000468765.1:p.Pro66Ser
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.693C>T
  hgvsp: ENST00000589785.1:c.693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*268C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.753C>T
  hgvsp: ENST00000538716.2:c.753C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.370C>T
  hgvsp: ENST00000587630.1:c.370C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.693C>T
  hgvsp: ENST00000319511.6:c.693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.753C>T
  hgvsp: ENST00000587989.1:c.753C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.693C>T
  hgvsp: ENST00000357984.3:c.693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*119C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*119C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*275C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.582C>T
  hgvsp: ENST00000446571.3:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*119C>T
  variant of: http://identifiers.org/hgnc/28459
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro66Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-42268020-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42268020
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42268020
    reference: chr 17
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.694C>G
  hgvsp: ENSP00000467364.1:p.Pro232Ala
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.694C>G
  hgvsp: ENSP00000313214.5:p.Pro232Ala
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*269C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.197C>G
  hgvsp: ENSP00000468765.1:p.Pro66Arg
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*276C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.371C>G
  hgvsp: ENSP00000465810.1:p.Pro125Ala
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.754C>G
  hgvsp: ENSP00000466971.1:p.Pro252Ala
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*120C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.583C>G
  hgvsp: ENSP00000413127.2:p.Pro195Ala
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.694C>G
  hgvsp: ENSP00000350672.3:p.Pro232Ala
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*120C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.754C>G
  hgvsp: ENSP00000444565.1:p.Pro252Ala
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*120C>G
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11747
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro252Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

17-42268023-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42268023
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42268023
    reference: chr 17
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.374T>C
  hgvsp: ENSP00000465810.1:p.Ser126Pro
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.757T>C
  hgvsp: ENSP00000466971.1:p.Ser253Pro
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*272T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*123T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.586T>C
  hgvsp: ENSP00000413127.2:p.Ser196Pro
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.200T>C
  hgvsp: ENSP00000468765.1:p.Leu67Pro
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.697T>C
  hgvsp: ENSP00000467364.1:p.Ser233Pro
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.697T>C
  hgvsp: ENSP00000313214.5:p.Ser233Pro
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*279T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*123T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.697T>C
  hgvsp: ENSP00000350672.3:p.Ser233Pro
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.757T>C
  hgvsp: ENSP00000444565.1:p.Ser253Pro
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*123T>C
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser253Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

17-42268026-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42268026
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42268026
    reference: chr 17
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.700G>A
  hgvsp: ENSP00000467364.1:p.Ala234Thr
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.760G>A
  hgvsp: ENSP00000444565.1:p.Ala254Thr
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*126G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*282G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.760G>A
  hgvsp: ENSP00000466971.1:p.Ala254Thr
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.203G>A
  hgvsp: ENSP00000468765.1:p.Ser68Asn
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*126G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.377G>A
  hgvsp: ENSP00000465810.1:p.Ala127Thr
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.700G>A
  hgvsp: ENSP00000350672.3:p.Ala234Thr
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*275G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*126G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.700G>A
  hgvsp: ENSP00000313214.5:p.Ala234Thr
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.589G>A
  hgvsp: ENSP00000413127.2:p.Ala197Thr
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala254Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

17-42268027-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42268027
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42268027
    reference: chr 17
allele count: 7
allele frequency: 5.766252594813668e-5
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*127C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.761C>T
  hgvsp: ENSP00000466971.1:p.Ala254Val
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.701C>T
  hgvsp: ENSP00000350672.3:p.Ala234Val
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.378C>T
  hgvsp: ENSP00000465810.1:p.Ala127Val
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.590C>T
  hgvsp: ENSP00000413127.2:p.Ala197Val
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*127C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.761C>T
  hgvsp: ENSP00000444565.1:p.Ala254Val
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.204C>T
  hgvsp: ENST00000589184.1:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.701C>T
  hgvsp: ENSP00000313214.5:p.Ala234Val
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*127C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*276C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*283C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.701C>T
  hgvsp: ENSP00000467364.1:p.Ala234Val
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala254Val
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-42268033-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42268033
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42268033
    reference: chr 17
allele count: 7
allele frequency: 5.766157597324503e-5
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.767T>C
  hgvsp: ENSP00000444565.1:p.Leu256Ser
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*289T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.707T>C
  hgvsp: ENSP00000467364.1:p.Leu236Ser
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*282T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.210T>C
  hgvsp: ENST00000589184.1:c.210T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*133T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*133T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.707T>C
  hgvsp: ENSP00000313214.5:p.Leu236Ser
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*133T>C
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.384T>C
  hgvsp: ENSP00000465810.1:p.Leu129Ser
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.707T>C
  hgvsp: ENSP00000350672.3:p.Leu236Ser
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.596T>C
  hgvsp: ENSP00000413127.2:p.Leu199Ser
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.767T>C
  hgvsp: ENSP00000466971.1:p.Leu256Ser
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu256Ser
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

17-42268035-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42268035
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42268036
    reference: chr 17
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*140dupC
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.774dupC
  hgvsp: ENSP00000466971.1:p.Ser259LeufsTer4
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*289dupC
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.603dupC
  hgvsp: ENSP00000413127.2:p.Ser202LeufsTer4
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*296dupC
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.391dupC
  hgvsp: ENSP00000465810.1:p.Ser132LeufsTer4
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.217dupC
  hgvsp: ENSP00000468765.1:p.Leu73ProfsTer57
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*140dupC
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*140dupC
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.714dupC
  hgvsp: ENSP00000350672.3:p.Ser239LeufsTer4
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.774dupC
  hgvsp: ENSP00000444565.1:p.Ser259LeufsTer4
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.714dupC
  hgvsp: ENSP00000313214.5:p.Ser239LeufsTer4
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.714dupC
  hgvsp: ENSP00000467364.1:p.Ser239LeufsTer4
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser259LeufsTer4
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS

17-42268036-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42268036
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42268036
    reference: chr 17
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*136C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*292C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.213C>T
  hgvsp: ENST00000589184.1:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.770C>T
  hgvsp: ENSP00000466971.1:p.Ala257Val
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.710C>T
  hgvsp: ENSP00000313214.5:p.Ala237Val
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.387C>T
  hgvsp: ENSP00000465810.1:p.Ala130Val
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*285C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.770C>T
  hgvsp: ENSP00000444565.1:p.Ala257Val
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.710C>T
  hgvsp: ENSP00000467364.1:p.Ala237Val
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.599C>T
  hgvsp: ENSP00000413127.2:p.Ala200Val
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*136C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*136C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.710C>T
  hgvsp: ENSP00000350672.3:p.Ala237Val
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala257Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

17-42268042-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42268042
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42268042
    reference: chr 17
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*291C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*142C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.776C>T
  hgvsp: ENSP00000444565.1:p.Ser259Leu
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*142C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*142C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.716C>T
  hgvsp: ENSP00000313214.5:p.Ser239Leu
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.219C>T
  hgvsp: ENST00000589184.1:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.716C>T
  hgvsp: ENSP00000467364.1:p.Ser239Leu
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.776C>T
  hgvsp: ENSP00000466971.1:p.Ser259Leu
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.716C>T
  hgvsp: ENSP00000350672.3:p.Ser239Leu
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.605C>T
  hgvsp: ENSP00000413127.2:p.Ser202Leu
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*298C>T
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.393C>T
  hgvsp: ENSP00000465810.1:p.Ser132Leu
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser259Leu
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

17-42268052-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42268052
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42268052
    reference: chr 17
allele count: 94
allele frequency: 7.743125916407189e-4
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.786G>A
  hgvsp: ENST00000587989.1:c.786G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.726G>A
  hgvsp: ENST00000319511.6:c.726G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.726G>A
  hgvsp: ENST00000589785.1:c.726G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*152G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*301G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*308G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.403G>A
  hgvsp: ENST00000587630.1:c.403G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*152G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.615G>A
  hgvsp: ENST00000446571.3:c.615G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.726G>A
  hgvsp: ENST00000357984.3:c.726G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.786G>A
  hgvsp: ENST00000538716.2:c.786G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*152G>A
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.*1G>A
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 9.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 11240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Glu262Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

17-42268057-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42268057
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 42268057
    reference: chr 17
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467364
  ensembl transcript: ENST00000589785
  gene symbol: TMUB2
  hgvsc: ENST00000589785.1:c.731C>G
  hgvsp: ENSP00000467364.1:p.Pro244Arg
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465810
  ensembl transcript: ENST00000587630
  gene symbol: TMUB2
  hgvsc: ENST00000587630.1:c.408C>G
  hgvsp: ENSP00000465810.1:p.Pro137Arg
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465217
  ensembl transcript: ENST00000588413
  gene symbol: TMUB2
  hgvsc: ENST00000588413.1:c.*306C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000468765
  ensembl transcript: ENST00000589184
  gene symbol: TMUB2
  hgvsc: ENST00000589184.1:c.*6C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000413127
  ensembl transcript: ENST00000446571
  gene symbol: TMUB2
  hgvsc: ENST00000446571.3:c.620C>G
  hgvsp: ENSP00000413127.2:p.Pro207Arg
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000313214
  ensembl transcript: ENST00000319511
  gene symbol: TMUB2
  hgvsc: ENST00000319511.6:c.731C>G
  hgvsp: ENSP00000313214.5:p.Pro244Arg
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000350672
  ensembl transcript: ENST00000357984
  gene symbol: TMUB2
  hgvsc: ENST00000357984.3:c.731C>G
  hgvsp: ENSP00000350672.3:p.Pro244Arg
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465153
  ensembl transcript: ENST00000587172
  gene symbol: TMUB2
  hgvsc: ENST00000587172.1:c.*157C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466971
  ensembl transcript: ENST00000587989
  gene symbol: TMUB2
  hgvsc: ENST00000587989.1:c.791C>G
  hgvsp: ENSP00000466971.1:p.Pro264Arg
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000444565
  ensembl transcript: ENST00000538716
  gene symbol: TMUB2
  hgvsc: ENST00000538716.2:c.791C>G
  hgvsp: ENSP00000444565.1:p.Pro264Arg
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000466189
  ensembl transcript: ENST00000592825
  gene symbol: TMUB2
  hgvsc: ENST00000592825.1:c.*157C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000465015
  ensembl transcript: ENST00000590235
  gene symbol: TMUB2
  hgvsc: ENST00000590235.1:c.*157C>G
  variant of: http://identifiers.org/hgnc/28459
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168591
  ensembl protein: ENSP00000467506
  ensembl transcript: ENST00000587326
  gene symbol: TMUB2
  hgvsc: ENST00000587326.1:c.*313C>G
  variant of: http://identifiers.org/hgnc/28459
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro264Arg
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3405
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5215
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10549
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3940
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
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num of homozygotes: 0

East Asian
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allele frequency: 1.214771622934888e-4
allele num: 8232
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
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African
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InbreedingCoeff
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QD
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FS
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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DP
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.66024704476026e-5
allele num: 60232
num of homozygotes: 0

African
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South Asian
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Other
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Latino
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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BaseQRankSum
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DP
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VQSLOD
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MQRankSum
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FS
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ClippingRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8134
num of homozygotes: 0

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

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

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

South Asian
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Latino
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allele num: 11004
num of homozygotes: 0

African
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Other
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European (Finnish)
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ReadPosRankSum
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DP
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FS
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MQRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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European (Finnish)
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South Asian
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Latino
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East Asian
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European (Non-Finnish)
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FS
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DP
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MQRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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African
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Other
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European (Finnish)
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South Asian
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European (Non-Finnish)
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DP
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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FS
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MQ
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2853
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62722
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.087429317094389e-4
allele num: 9196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

MQ
type: SiteQuality
SIO_000300: 5.801e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 1.954161e6

FS
type: SiteQuality
SIO_000300: 4.868e0

QD
type: SiteQuality
SIO_000300: 9.92e0

VQSLOD
type: SiteQuality
SIO_000300: -1.778e0

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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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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bin: 7.25e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5246
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.062473438164046e-4
allele num: 9412
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: 0
allele frequency: 0.0e0
allele num: 62738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.288e0

MQRankSum
type: SiteQuality
SIO_000300: 8.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

MQ
type: SiteQuality
SIO_000300: 5.694e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.15e-1

DP
type: SiteQuality
SIO_000300: 1.95895e6

VQSLOD
type: SiteQuality
SIO_000300: -3.064e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

QD
type: SiteQuality
SIO_000300: 8.640000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.51e-1

GenotypeDepth
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variant carriers: 11

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 5

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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variant carriers: 84

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4570
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GenotypeQuality
all individuals: 4544
bin: 8.25e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9414
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.282051282051282e-3
allele num: 780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.911984959051655e-4
allele num: 62762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.620545073375262e-4
allele num: 11448
num of homozygotes: 0

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

South Asian
type: Population
allele count: 72
allele frequency: 7.772020725388601e-3
allele num: 9264
num of homozygotes: 3

MQ
type: SiteQuality
SIO_000300: 5.829e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.5e-1

DP
type: SiteQuality
SIO_000300: 1.960861e6

VQSLOD
type: SiteQuality
SIO_000300: -6.17e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

FS
type: SiteQuality
SIO_000300: 2.824e0

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

QD
type: SiteQuality
SIO_000300: 1.21e1

GenotypeDepth
all individuals: 9396
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 314
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variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62788
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.078050884001725e-4
allele num: 9276
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

QD
type: SiteQuality
SIO_000300: 1.02e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-1

DP
type: SiteQuality
SIO_000300: 1.963163e6

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.88e-1

GenotypeDepth
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bin: 7.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 80
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
all individuals: 2889
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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
all individuals: 199
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GenotypeQuality
all individuals: 8285
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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
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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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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: 2871
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9436
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.592711751027299e-5
allele num: 62786
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 1.146e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.53e-1

DP
type: SiteQuality
SIO_000300: 1.966101e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.203e1

MQ
type: SiteQuality
SIO_000300: 5.851e1

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e-1

GenotypeDepth
all individuals: 217
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 8.25e1
variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 6515
bin: 4.25e1
variant carriers: 0

GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.592711751027299e-5
allele num: 62786
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.966101e6

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 1.146e0

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e-1

MQ
type: SiteQuality
SIO_000300: 5.851e1

QD
type: SiteQuality
SIO_000300: 1.203e1

GenotypeDepth
all individuals: 6515
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 530
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1343
bin: 5.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 127
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GenotypeDepth
all individuals: 142
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.175917215428034e-4
allele num: 8504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9444
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62808
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.967126e6

MQ
type: SiteQuality
SIO_000300: 5.739e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.64e0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.175e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.15e-1

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

Other
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num of homozygotes: 0

East Asian
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allele frequency: 1.17096018735363e-4
allele num: 8540
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63842
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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MQRankSum
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DP
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MQ
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QD
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VQSLOD
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InbreedingCoeff
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FS
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
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allele count: 1
allele frequency: 1.564112991522508e-5
allele num: 63934
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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

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

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

African
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allele count: 0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
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allele num: 64356
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.938e1

DP
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SIO_000300: 2.029563e6

ClippingRankSum
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SIO_000300: 3.14e-1

BaseQRankSum
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InbreedingCoeff
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MQRankSum
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FS
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ReadPosRankSum
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QD
type: SiteQuality
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VQSLOD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

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

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

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

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

African
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East Asian
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ReadPosRankSum
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MQRankSum
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FS
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MQ
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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DP
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QD
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

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

South Asian
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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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MQ
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQRankSum
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BaseQRankSum
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VQSLOD
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Finnish)
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South Asian
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Latino
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European (Non-Finnish)
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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DP
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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South Asian
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Latino
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European (Finnish)
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QD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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FS
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DP
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VQSLOD
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MQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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Latino
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Other
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East Asian
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European (Non-Finnish)
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MQ
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MQRankSum
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BaseQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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East Asian
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South Asian
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European (Finnish)
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African
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FS
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DP
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BaseQRankSum
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MQ
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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VQSLOD
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GenotypeDepth
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European (Finnish)
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South Asian
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European (Non-Finnish)
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East Asian
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African
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ReadPosRankSum
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DP
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QD
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MQRankSum
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FS
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VQSLOD
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ClippingRankSum
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MQ
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African
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South Asian
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FS
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MQ
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ClippingRankSum
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DP
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European (Finnish)
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FS
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BaseQRankSum
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InbreedingCoeff
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DP
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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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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European (Non-Finnish)
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African
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South Asian
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European (Finnish)
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East Asian
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MQ
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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FS
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QD
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Non-Finnish)
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Other
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Latino
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European (Finnish)
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FS
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InbreedingCoeff
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DP
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MQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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East Asian
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European (Non-Finnish)
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Other
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VQSLOD
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FS
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MQRankSum
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InbreedingCoeff
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DP
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QD
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ReadPosRankSum
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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East Asian
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European (Non-Finnish)
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African
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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FS
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MQ
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DP
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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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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DP
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VQSLOD
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MQ
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ReadPosRankSum
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South Asian
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East Asian
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African
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VQSLOD
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InbreedingCoeff
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QD
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MQRankSum
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ReadPosRankSum
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MQ
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DP
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 18668
bin: 9.75e1
variant carriers: 2

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
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: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.434e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.125839e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.99e-1

FS
type: SiteQuality
SIO_000300: 5.51e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 345

GenotypeDepth
all individuals: 1099
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variant carriers: 214

GenotypeDepth
all individuals: 3916
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variant carriers: 95

GenotypeDepth
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variant carriers: 213

GenotypeDepth
all individuals: 1466
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variant carriers: 183

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3785
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 20075
bin: 9.75e1
variant carriers: 2238

European (Finnish)
type: Population
allele count: 44
allele frequency: 6.654567453115548e-3
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 430
allele frequency: 4.974548819990745e-2
allele num: 8644
num of homozygotes: 10

European (Non-Finnish)
type: Population
allele count: 588
allele frequency: 8.819294456443484e-3
allele num: 66672
num of homozygotes: 5

South Asian
type: Population
allele count: 90
allele frequency: 5.459839844697889e-3
allele num: 16484
num of homozygotes: 2

Latino
type: Population
allele count: 80
allele frequency: 6.916825177243645e-3
allele num: 11566
num of homozygotes: 0

Other
type: Population
allele count: 16
allele frequency: 1.766004415011038e-2
allele num: 906
num of homozygotes: 1

African
type: Population
allele count: 1065
allele frequency: 1.024235429890364e-1
allele num: 10398
num of homozygotes: 54

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.76e-2

MQ
type: SiteQuality
SIO_000300: 5.919e1

QD
type: SiteQuality
SIO_000300: 1.481e1

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.03e-1

DP
type: SiteQuality
SIO_000300: 2.211605e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.74e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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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: 24
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GenotypeQuality
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GenotypeQuality
all individuals: 6
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 64
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GenotypeQuality
all individuals: 20075
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variant carriers: 3

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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: 3
allele frequency: 4.499640028797696e-5
allele num: 66672
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.919e1

QD
type: SiteQuality
SIO_000300: 1.481e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.211605e6

BaseQRankSum
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SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.76e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.12e-1

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 4

GenotypeDepth
all individuals: 209
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 1449
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variant carriers: 4

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 11
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 53

GenotypeQuality
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GenotypeQuality
all individuals: 14
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 16498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 52
allele frequency: 7.797504798464491e-4
allele num: 66688
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.86e-1

BaseQRankSum
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SIO_000300: -3.739e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

FS
type: SiteQuality
SIO_000300: 5.56e-1

ClippingRankSum
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SIO_000300: -2.27e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

QD
type: SiteQuality
SIO_000300: 1.362e1

DP
type: SiteQuality
SIO_000300: 2.201686e6

GenotypeDepth
all individuals: 142
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variant carriers: 0

GenotypeDepth
all individuals: 390
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
all individuals: 0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 19696
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variant carriers: 1

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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)
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allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e-1

VQSLOD
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FS
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SIO_000300: 3.297e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

MQRankSum
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QD
type: SiteQuality
SIO_000300: 1.217e1

InbreedingCoeff
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -2.792e0

DP
type: SiteQuality
SIO_000300: 2.201816e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.927e1

MQRankSum
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SIO_000300: -1.451e0

InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -2.77e-1

FS
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BaseQRankSum
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VQSLOD
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SIO_000300: -4.518e-1

DP
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SIO_000300: 2.201967e6

QD
type: SiteQuality
SIO_000300: 1.359e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.84e-1

GenotypeDepth
all individuals: 10194
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 144
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variant carriers: 2

GenotypeDepth
all individuals: 6532
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 209
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variant carriers: 3

GenotypeDepth
all individuals: 267
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GenotypeDepth
all individuals: 1449
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variant carriers: 1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 5264
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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: 17

GenotypeQuality
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GenotypeQuality
all individuals: 3831
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GenotypeQuality
all individuals: 6154
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
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Latino
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East Asian
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African
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ClippingRankSum
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FS
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MQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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QD
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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African
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Latino
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Other
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European (Non-Finnish)
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QD
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VQSLOD
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MQRankSum
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FS
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InbreedingCoeff
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DP
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ClippingRankSum
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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East Asian
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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FS
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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MQRankSum
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MQ
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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South Asian
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European (Non-Finnish)
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Other
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MQRankSum
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FS
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InbreedingCoeff
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QD
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BaseQRankSum
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ReadPosRankSum
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MQ
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DP
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Finnish)
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East Asian
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South Asian
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VQSLOD
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ReadPosRankSum
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DP
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MQRankSum
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MQ
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FS
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InbreedingCoeff
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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South Asian
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African
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European (Finnish)
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East Asian
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InbreedingCoeff
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MQ
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DP
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QD
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BaseQRankSum
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VQSLOD
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MQRankSum
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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East Asian
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African
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South Asian
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MQ
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ReadPosRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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DP
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InbreedingCoeff
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FS
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

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

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 6614
num of homozygotes: 0

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

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

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

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

South Asian
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ClippingRankSum
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FS
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MQ
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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DP
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QD
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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ReadPosRankSum
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FS
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QD
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MQRankSum
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MQ
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DP
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

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

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

South Asian
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allele count: 7
allele frequency: 4.239341085271318e-4
allele num: 16512
num of homozygotes: 0

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

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.3e-1

ClippingRankSum
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DP
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BaseQRankSum
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MQRankSum
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QD
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FS
type: SiteQuality
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InbreedingCoeff
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MQ
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ReadPosRankSum
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SIO_000300: 1.4e0

GenotypeDepth
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variant carriers: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

South Asian
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VQSLOD
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ReadPosRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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MQRankSum
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QD
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FS
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GenotypeDepth
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variant carriers: 0

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

South Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66728
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

Latino
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East Asian
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African
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Other
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VQSLOD
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MQ
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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ReadPosRankSum
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QD
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 10402
num of homozygotes: 0

East Asian
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South Asian
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allele num: 16512
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Other
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Latino
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European (Finnish)
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European (Non-Finnish)
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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QD
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FS
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InbreedingCoeff
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DP
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SIO_000300: 2.237155e6

MQ
type: SiteQuality
SIO_000300: 5.922e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-1

GenotypeDepth
all individuals: 432
bin: 7.75e1
variant carriers: 4

GenotypeDepth
all individuals: 187
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 2359
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 253
bin: 8.75e1
variant carriers: 5

GenotypeDepth
all individuals: 600
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 20103
bin: 9.75e1
variant carriers: 94

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5241
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3951
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13418
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3822
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2999
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4924
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6082
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

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

African
type: Population
allele count: 6
allele frequency: 5.768121515093252e-4
allele num: 10402
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 81
allele frequency: 1.213810465743571e-3
allele num: 66732
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.379e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-1

FS
type: SiteQuality
SIO_000300: 1.212e0

VQSLOD
type: SiteQuality
SIO_000300: 2.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.16e-1

MQ
type: SiteQuality
SIO_000300: 5.935e1

DP
type: SiteQuality
SIO_000300: 2.246633e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.627e0