17-15406151-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406151
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406151
    reference: chr 17
allele count: 1
allele frequency: 9.368032525808929e-6
allele num: 106746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+261C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+261C>T
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42948C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42948C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+261C>T
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42948C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.*27C>T
  variant of: http://identifiers.org/hgnc/30453
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2986
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5054
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4286
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

17-15406155-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406155
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406155
    reference: chr 17
allele count: 1
allele frequency: 9.321054397673465e-6
allele num: 107284
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.*23T>C
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42944T>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+257T>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42944T>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42944T>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+257T>C
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+257T>C
  variant of: http://identifiers.org/hgnc/30453
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38222
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

17-15406166-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406166
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406166
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 109000
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42933A>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42933A>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+246A>C
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42933A>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+246A>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.*12A>C
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+246A>C
  variant of: http://identifiers.org/hgnc/14383
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42189
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5730
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

17-15406171-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406171
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406171
    reference: chr 17
allele count: 1
allele frequency: 9.136759008844382e-6
allele num: 109448
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42928C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+241C>T
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+241C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42928C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42928C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.*7C>T
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+241C>T
  variant of: http://identifiers.org/hgnc/30453
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42763
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-15406172-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406172
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406172
    reference: chr 17
allele count: 2
allele frequency: 1.825950407186941e-5
allele num: 109532
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+240A>G
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42927A>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42927A>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+240A>G
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.*6A>G
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42927A>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+240A>G
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20048
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42635
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5776
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

17-15406174-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406174
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406175
    reference: chr 17
allele count: 4
allele frequency: 3.647172529496508e-5
allele num: 109674
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+237dupA
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+237dupA
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.*3dupA
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42924dupA
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+237dupA
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42924dupA
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42924dupA
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5794
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/17-15406180-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406180
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406180
    reference: chr 17
allele count: 2
allele frequency: 1.816497429656137e-5
allele num: 110102
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+232T>G
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42919T>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: stop_lost
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.829T>G
  hgvsp: ENSP00000225576.3:p.Ter277GluextTer31
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42919T>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+232T>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42919T>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+232T>G
  variant of: http://identifiers.org/hgnc/14383
canonical: true
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5848
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4535
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ter277GluextTer31
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

17-15406181-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406181
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406181
    reference: chr 17
allele count: 15
allele frequency: 1.360593581626544e-4
allele num: 110246
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+231T>C
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42918T>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42918T>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+231T>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42918T>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.828T>C
  hgvsp: ENST00000225576.3:c.828T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+231T>C
  variant of: http://identifiers.org/hgnc/14383
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 20305
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26980
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4540
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 5864
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 7.25e1
  variant carriers: 1
hgvs: p.His276His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

17-15406181-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406181
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406181
    reference: chr 17
allele count: 4
allele frequency: 3.628249551004118e-5
allele num: 110246
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42918T>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42918T>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42918T>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.828T>A
  hgvsp: ENSP00000225576.3:p.His276Gln
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+231T>A
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+231T>A
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+231T>A
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43290
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His276Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

17-15406182-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406182
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406182
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 110344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42917A>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+230A>C
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+230A>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.827A>C
  hgvsp: ENSP00000225576.3:p.His276Pro
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42917A>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42917A>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+230A>C
  variant of: http://identifiers.org/hgnc/30453
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43354
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His276Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

17-15406188-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406188
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406188
    reference: chr 17
allele count: 2
allele frequency: 1.799434977417091e-5
allele num: 111146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+224G>A
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+224G>A
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.821G>A
  hgvsp: ENSP00000225576.3:p.Gly274Glu
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+224G>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42911G>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42911G>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42911G>A
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43649
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly274Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

17-15406197-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406197
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406197
    reference: chr 17
allele count: 6063
allele frequency: 5.347220997301254e-2
allele num: 113386
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.812T>A
  hgvsp: ENSP00000225576.3:p.Leu271Gln
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42902T>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42902T>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+215T>A
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42902T>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+215T>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+215T>A
  variant of: http://identifiers.org/hgnc/14383
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25091
  bin: 2.25e1
  variant carriers: 151
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 3.25e1
  variant carriers: 361
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.75e1
  variant carriers: 200
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 1.25e1
  variant carriers: 178
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.25e1
  variant carriers: 655
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 574
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 7.5e0
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.75e1
  variant carriers: 397
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 153
genotype depth: GenotypeDepth
  all individuals: 19487
  bin: 2.75e1
  variant carriers: 223
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.75e1
  variant carriers: 180
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.75e1
  variant carriers: 662
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 195
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.75e1
  variant carriers: 454
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.75e1
  variant carriers: 572
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 263
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 6.25e1
  variant carriers: 494
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 8.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5141
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 9.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 3685
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 7
hgvs: p.Leu271Gln
num of homozygotes: 184
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-15406199-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406199
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406199
    reference: chr 17
allele count: 26
allele frequency: 2.287161983849118e-4
allele num: 113678
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+213T>C
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+213T>C
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42900T>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.810T>C
  hgvsp: ENST00000225576.3:c.810T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+213T>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42900T>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42900T>C
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22217
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5467
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3678
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45483
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His270His
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

17-15406201-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406201
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406201
    reference: chr 17
allele count: 1
allele frequency: 8.780710535096499e-6
allele num: 113886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42898C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42898C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42898C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+211C>T
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+211C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.808C>T
  hgvsp: ENSP00000225576.3:p.His270Tyr
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+211C>T
  variant of: http://identifiers.org/hgnc/30453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His270Tyr
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum

17-15406206-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406206
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406206
    reference: chr 17
allele count: 1
allele frequency: 8.742787200559538e-6
allele num: 114380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+206A>C
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42893A>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42893A>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.803A>C
  hgvsp: ENSP00000225576.3:p.Lys268Thr
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+206A>C
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42893A>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+206A>C
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45756
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5981
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys268Thr
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

17-15406207-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406207
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406207
    reference: chr 17
allele count: 1
allele frequency: 8.73591333973967e-6
allele num: 114470
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.802A>G
  hgvsp: ENSP00000225576.3:p.Lys268Glu
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42892A>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42892A>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+205A>G
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+205A>G
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42892A>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+205A>G
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5986
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3412
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys268Glu
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

17-15406214-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406214
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406214
    reference: chr 17
allele count: 66
allele frequency: 5.703816371681416e-4
allele num: 115712
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+198C>T
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42885C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42885C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+198C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42885C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.795C>T
  hgvsp: ENST00000225576.3:c.795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+198C>T
  variant of: http://identifiers.org/hgnc/30453
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26709
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5509
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22577
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 9.75e1
  variant carriers: 66
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2869
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro265Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-15406221-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406221
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406221
    reference: chr 17
allele count: 1
allele frequency: 8.54627809588924e-6
allele num: 117010
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42878G>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+191G>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.788G>T
  hgvsp: ENSP00000225576.3:p.Gly263Val
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+191G>T
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42878G>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42878G>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+191G>T
  variant of: http://identifiers.org/hgnc/14383
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22892
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly263Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

17-15406227-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406227
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406227
    reference: chr 17
allele count: 3
allele frequency: 2.547208259747317e-5
allele num: 117776
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42872G>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42872G>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42872G>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+185G>A
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.782G>A
  hgvsp: ENSP00000225576.3:p.Gly261Glu
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+185G>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+185G>A
  variant of: http://identifiers.org/hgnc/30453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly261Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-15406231-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406231
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406231
    reference: chr 17
allele count: 1
allele frequency: 8.452513777597457e-6
allele num: 118308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+181A>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+181A>G
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42868A>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+181A>G
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42868A>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42868A>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.778A>G
  hgvsp: ENSP00000225576.3:p.Arg260Gly
  variant of: http://identifiers.org/hgnc/30453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg260Gly
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

17-15406232-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406232
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406232
    reference: chr 17
allele count: 1
allele frequency: 8.445945945945946e-6
allele num: 118400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+180C>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.777C>G
  hgvsp: ENSP00000225576.3:p.Ser259Arg
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+180C>G
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42867C>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+180C>G
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42867C>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42867C>G
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser259Arg
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-15406233-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406233
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406233
    reference: chr 17
allele count: 1
allele frequency: 8.438960995122281e-6
allele num: 118498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42866G>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+179G>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42866G>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42866G>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.776G>A
  hgvsp: ENSP00000225576.3:p.Ser259Asn
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+179G>A
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+179G>A
  variant of: http://identifiers.org/hgnc/30453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47599
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser259Asn
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

17-15406235-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406235
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406235
    reference: chr 17
allele count: 1
allele frequency: 8.419209267865562e-6
allele num: 118776
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+177T>C
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.774T>C
  hgvsp: ENST00000225576.3:c.774T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+177T>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42864T>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42864T>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42864T>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+177T>C
  variant of: http://identifiers.org/hgnc/30453
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6170
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47973
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn258Asn
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

17-15406236-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406236
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406236
    reference: chr 17
allele count: 2
allele frequency: 1.682963361887612e-5
allele num: 118838
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+176A>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.773A>G
  hgvsp: ENSP00000225576.3:p.Asn258Ser
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+176A>G
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42863A>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42863A>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+176A>G
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42863A>G
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6180
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn258Ser
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/17-15406241-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406241
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406241
    reference: chr 17
allele count: 2648
allele frequency: 2.219763269959427e-2
allele num: 119292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+171T>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42858T>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42858T>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+171T>G
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.768T>G
  hgvsp: ENSP00000225576.3:p.Ser256Arg
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+171T>G
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42858T>G
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 187
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 3.75e1
  variant carriers: 252
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 1.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 203
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 22984
  bin: 2.75e1
  variant carriers: 210
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 247
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 27283
  bin: 2.25e1
  variant carriers: 153
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 7.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.75e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 3.25e1
  variant carriers: 235
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 8.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 47045
  bin: 6.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.75e1
  variant carriers: 7
hgvs: p.Ser256Arg
num of homozygotes: 301
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

17-15406254-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406254
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406254
    reference: chr 17
allele count: 1
allele frequency: 8.327781479013991e-6
allele num: 120080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42845G>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42845G>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+158G>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.755G>A
  hgvsp: ENSP00000225576.3:p.Gly252Glu
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+158G>A
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42845G>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+158G>A
  variant of: http://identifiers.org/hgnc/30453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly252Glu
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

17-15406258-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406258
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406258
    reference: chr 17
allele count: 4
allele frequency: 3.328063898826857e-5
allele num: 120190
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42841A>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42841A>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42841A>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+154A>G
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.751A>G
  hgvsp: ENSP00000225576.3:p.Arg251Gly
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+154A>G
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+154A>G
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6203
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg251Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

17-15406259-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406259
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406259
    reference: chr 17
allele count: 4
allele frequency: 3.325960786922322e-5
allele num: 120266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42840G>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+153G>A
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42840G>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.750G>A
  hgvsp: ENSP00000225576.3:p.Trp250Ter
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+153G>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42840G>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+153G>A
  variant of: http://identifiers.org/hgnc/30453
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Trp250Ter
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

17-15406262-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406262
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406262
    reference: chr 17
allele count: 4
allele frequency: 3.324523346465201e-5
allele num: 120318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+150C>G
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+150C>G
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.747C>G
  hgvsp: ENST00000225576.3:c.747C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42837C>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+150C>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42837C>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42837C>G
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48880
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala249Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/17-15406264-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406264
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406264
    reference: chr 17
allele count: 1
allele frequency: 8.311861025683651e-6
allele num: 120310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+148G>T
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.745G>T
  hgvsp: ENSP00000225576.3:p.Ala249Ser
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+148G>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42835G>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42835G>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42835G>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+148G>T
  variant of: http://identifiers.org/hgnc/14383
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48474
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6154
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala249Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

17-15406264-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406264
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406264
    reference: chr 17
allele count: 1
allele frequency: 8.311861025683651e-6
allele num: 120310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42835G>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42835G>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.745G>C
  hgvsp: ENSP00000225576.3:p.Ala249Pro
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+148G>C
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+148G>C
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42835G>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+148G>C
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala249Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP

17-15406270-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406270
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406270
    reference: chr 17
allele count: 1
allele frequency: 8.30592378484335e-6
allele num: 120396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+142C>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.739C>A
  hgvsp: ENSP00000225576.3:p.Leu247Ile
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42829C>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+142C>A
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42829C>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42829C>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+142C>A
  variant of: http://identifiers.org/hgnc/14383
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu247Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-15406272-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406272
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406272
    reference: chr 17
allele count: 1
allele frequency: 8.304682179812978e-6
allele num: 120414
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+140G>T
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+140G>T
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.737G>T
  hgvsp: ENSP00000225576.3:p.Arg246Leu
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42827G>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42827G>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+140G>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42827G>T
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24291
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg246Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

17-15406273-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406273
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406273
    reference: chr 17
allele count: 2
allele frequency: 1.661515967168445e-5
allele num: 120372
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.736C>G
  hgvsp: ENSP00000225576.3:p.Arg246Gly
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+139C>G
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42826C>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+139C>G
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+139C>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42826C>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42826C>G
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5811
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg246Gly
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/17-15406275-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406275
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406275
    reference: chr 17
allele count: 1
allele frequency: 8.301924386072691e-6
allele num: 120454
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.734T>G
  hgvsp: ENSP00000225576.3:p.Leu245Trp
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+137T>G
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+137T>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42824T>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+137T>G
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42824T>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42824T>G
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48799
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu245Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-15406285-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406285
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406285
    reference: chr 17
allele count: 1
allele frequency: 8.326949338840222e-6
allele num: 120092
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42814T>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.724T>G
  hgvsp: ENSP00000225576.3:p.Phe242Val
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+127T>G
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+127T>G
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42814T>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+127T>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42814T>G
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe242Val
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

17-15406295-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406295
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406295
    reference: chr 17
allele count: 4
allele frequency: 3.333000033330001e-5
allele num: 120012
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+117C>A
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+117C>A
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.714C>A
  hgvsp: ENST00000225576.3:c.714C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42804C>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42804C>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+117C>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42804C>A
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26285
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23902
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46079
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5205
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro238Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

17-15406297-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406297
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406297
    reference: chr 17
allele count: 1
allele frequency: 8.328197611472925e-6
allele num: 120074
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42802C>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+115C>A
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+115C>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+115C>A
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42802C>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.712C>A
  hgvsp: ENSP00000225576.3:p.Pro238Thr
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42802C>A
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46459
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro238Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD

17-15406298-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406298
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406298
    reference: chr 17
allele count: 1
allele frequency: 8.345852111500584e-6
allele num: 119820
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42801G>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+114G>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+114G>A
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42801G>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.711G>A
  hgvsp: ENST00000225576.3:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+114G>A
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42801G>A
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala237Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

17-15406305-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406305
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406305
    reference: chr 17
allele count: 2
allele frequency: 1.663312320154355e-5
allele num: 120242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42794A>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.704A>G
  hgvsp: ENSP00000225576.3:p.Gln235Arg
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42794A>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+107A>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42794A>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+107A>G
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+107A>G
  variant of: http://identifiers.org/hgnc/30453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27440
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln235Arg
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

17-15406306-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406306
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406306
    reference: chr 17
allele count: 2
allele frequency: 1.66281447978849e-5
allele num: 120278
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.703C>G
  hgvsp: ENSP00000225576.3:p.Gln235Glu
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42793C>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42793C>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42793C>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+106C>G
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+106C>G
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+106C>G
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48875
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Gln235Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

17-15406315-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406315
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406315
    reference: chr 17
allele count: 3
allele frequency: 2.490535963339311e-5
allele num: 120456
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+97A>G
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+97A>G
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42784A>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42784A>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+97A>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.694A>G
  hgvsp: ENSP00000225576.3:p.Asn232Asp
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42784A>G
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50104
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn232Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

17-15406322-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406322
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406322
    reference: chr 17
allele count: 1
allele frequency: 8.289811821271656e-6
allele num: 120630
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42777T>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.687T>C
  hgvsp: ENST00000225576.3:c.687T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42777T>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42777T>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+90T>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+90T>C
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+90T>C
  variant of: http://identifiers.org/hgnc/14383
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50890
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala229Ala
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

17-15406325-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406325
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406325
    reference: chr 17
allele count: 1
allele frequency: 8.285827919925758e-6
allele num: 120688
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+87G>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42774G>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.684G>C
  hgvsp: ENST00000225576.3:c.684G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42774G>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+87G>C
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42774G>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+87G>C
  variant of: http://identifiers.org/hgnc/30453
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51217
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala228Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

17-15406330-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406330
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406330
    reference: chr 17
allele count: 1
allele frequency: 8.277049397430804e-6
allele num: 120816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+82C>T
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.679C>T
  hgvsp: ENSP00000225576.3:p.Arg227Cys
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42769C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+82C>T
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42769C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+82C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42769C>T
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg227Cys
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

17-15406333-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406333
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406333
    reference: chr 17
allele count: 2
allele frequency: 1.654670306941342e-5
allele num: 120870
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+79C>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42766C>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+79C>G
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42766C>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.676C>G
  hgvsp: ENSP00000225576.3:p.Leu226Val
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+79C>G
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42766C>G
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5417
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu226Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

17-15406341-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406341
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406341
    reference: chr 17
allele count: 1
allele frequency: 8.270614506657845e-6
allele num: 120910
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+71C>A
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42758C>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+71C>A
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.668C>A
  hgvsp: ENSP00000225576.3:p.Ser223Tyr
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42758C>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+71C>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42758C>A
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52005
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser223Tyr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/17-15406344-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406344
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406344
    reference: chr 17
allele count: 1
allele frequency: 8.270067318347971e-6
allele num: 120918
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+68G>T
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.665G>T
  hgvsp: ENSP00000225576.3:p.Ser222Ile
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+68G>T
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+68G>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42755G>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42755G>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42755G>T
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5354
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52068
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser222Ile
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-15406351-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406351
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406351
    reference: chr 17
allele count: 2
allele frequency: 1.653931394925738e-5
allele num: 120924
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42748C>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.658C>G
  hgvsp: ENSP00000225576.3:p.Arg220Gly
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+61C>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42748C>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+61C>G
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+61C>G
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42748C>G
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52165
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5332
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg220Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

17-15406353-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406353
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406353
    reference: chr 17
allele count: 1
allele frequency: 8.268973158913126e-6
allele num: 120934
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+59C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42746C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42746C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.656C>T
  hgvsp: ENSP00000225576.3:p.Pro219Leu
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+59C>T
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42746C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+59C>T
  variant of: http://identifiers.org/hgnc/30453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4654
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52209
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro219Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

17-15406353-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406353
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406353
    reference: chr 17
allele count: 3
allele frequency: 2.480691947673938e-5
allele num: 120934
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42746C>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.656C>G
  hgvsp: ENSP00000225576.3:p.Pro219Arg
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42746C>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42746C>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+59C>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+59C>G
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+59C>G
  variant of: http://identifiers.org/hgnc/30453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4654
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5342
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro219Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

17-15406354-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406354
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406354
    reference: chr 17
allele count: 3
allele frequency: 2.480650922802143e-5
allele num: 120936
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+58C>G
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42745C>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42745C>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.655C>G
  hgvsp: ENSP00000225576.3:p.Pro219Ala
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+58C>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42745C>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+58C>G
  variant of: http://identifiers.org/hgnc/14383
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52212
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro219Ala
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD

17-15406355-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406355
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406355
    reference: chr 17
allele count: 1
allele frequency: 8.270067318347971e-6
allele num: 120918
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.654G>A
  hgvsp: ENST00000225576.3:c.654G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42744G>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+57G>A
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+57G>A
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42744G>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+57G>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42744G>A
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28690
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26035
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala218Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

17-15406358-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406358
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406358
    reference: chr 17
allele count: 1
allele frequency: 8.270888127967181e-6
allele num: 120906
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.651T>C
  hgvsp: ENST00000225576.3:c.651T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+54T>C
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+54T>C
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42741T>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+54T>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42741T>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42741T>C
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro217Pro
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

17-15406358-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406358
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406358
    reference: chr 17
allele count: 2
allele frequency: 1.654177625593436e-5
allele num: 120906
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42741T>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+54T>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+54T>A
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.651T>A
  hgvsp: ENST00000225576.3:c.651T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42741T>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42741T>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+54T>A
  variant of: http://identifiers.org/hgnc/30453
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52217
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro217Pro
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum

17-15406368-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406368
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406367
    reference: chr 17
allele count: 519
allele frequency: 4.297424857166515e-3
allele num: 120770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+43delT
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42730delT
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+43delT
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42730delT
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.640delT
  hgvsp: ENSP00000225576.3:p.Tyr214ThrfsTer70
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+43delT
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42730delT
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 26021
  bin: 2.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 28437
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 3.25e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5199
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr214ThrfsTer70
num of homozygotes: 9
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: TA
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-15406370-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406370
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406370
    reference: chr 17
allele count: 1
allele frequency: 8.352544184958738e-6
allele num: 119724
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+42T>C
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.639T>C
  hgvsp: ENST00000225576.3:c.639T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42729T>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+42T>C
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42729T>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42729T>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+42T>C
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5201
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu213Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

17-15406371-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406371
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406371
    reference: chr 17
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42728T>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+41T>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.638T>C
  hgvsp: ENSP00000225576.3:p.Leu213Pro
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42728T>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+41T>C
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+41T>C
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42728T>C
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26250
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52273
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5272
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu213Pro
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

17-15406374-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406374
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406374
    reference: chr 17
allele count: 4
allele frequency: 3.316034685722813e-5
allele num: 120626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+38C>T
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42725C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.635C>T
  hgvsp: ENSP00000225576.3:p.Ala212Val
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42725C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+38C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+38C>T
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42725C>T
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28406
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5255
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52133
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala212Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/17-15406377-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406377
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406377
    reference: chr 17
allele count: 1
allele frequency: 8.300132802124834e-6
allele num: 120480
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.632G>T
  hgvsp: ENSP00000225576.3:p.Arg211Leu
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+35G>T
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+35G>T
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42722G>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+35G>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42722G>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42722G>T
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52024
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg211Leu
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum

17-15406378-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406378
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406378
    reference: chr 17
allele count: 2
allele frequency: 1.66143315223712e-5
allele num: 120378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+34C>G
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+34C>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42721C>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42721C>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+34C>G
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.631C>G
  hgvsp: ENSP00000225576.3:p.Arg211Gly
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42721C>G
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg211Gly
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/17-15406382-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406382
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406382
    reference: chr 17
allele count: 1
allele frequency: 8.351846593281774e-6
allele num: 119734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42717G>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+30G>T
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+30G>T
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.627G>T
  hgvsp: ENST00000225576.3:c.627G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42717G>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+30G>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42717G>T
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50786
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr209Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

17-15406383-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406383
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406383
    reference: chr 17
allele count: 1
allele frequency: 8.351288603831571e-6
allele num: 119742
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42716C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+29C>T
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42716C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42716C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+29C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.626C>T
  hgvsp: ENSP00000225576.3:p.Thr209Met
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+29C>T
  variant of: http://identifiers.org/hgnc/30453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4619
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr209Met
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

17-15406387-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406387
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406386
    reference: chr 17
allele count: 1
allele frequency: 8.356871855726965e-6
allele num: 119662
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42711delG
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.621delG
  hgvsp: ENSP00000225576.3:p.Ile208SerfsTer76
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42711delG
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42711delG
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+24delG
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+24delG
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+24delG
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4542
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile208SerfsTer76
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: TC
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

17-15406388-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406388
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406388
    reference: chr 17
allele count: 2
allele frequency: 1.673920321392702e-5
allele num: 119480
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+24G>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42711G>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42711G>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42711G>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.621G>A
  hgvsp: ENST00000225576.3:c.621G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+24G>A
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+24G>A
  variant of: http://identifiers.org/hgnc/30453
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27636
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg207Arg
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

17-15406392-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406392
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406392
    reference: chr 17
allele count: 1
allele frequency: 8.412976174451474e-6
allele num: 118864
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42707C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.617C>T
  hgvsp: ENSP00000225576.3:p.Thr206Met
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+20C>T
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+20C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42707C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42707C>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+20C>T
  variant of: http://identifiers.org/hgnc/30453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50395
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr206Met
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: G
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD

17-15406394-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406394
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406394
    reference: chr 17
allele count: 2
allele frequency: 1.688048615800135e-5
allele num: 118480
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+18C>A
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42705C>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.615C>A
  hgvsp: ENSP00000225576.3:p.Phe205Leu
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42705C>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+18C>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42705C>A
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+18C>A
  variant of: http://identifiers.org/hgnc/30453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4884
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2600
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49989
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe205Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

17-15406407-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406407
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406407
    reference: chr 17
allele count: 1
allele frequency: 8.68704067272443e-6
allele num: 115114
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42692A>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.468+5A>G
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.602A>G
  hgvsp: ENSP00000225576.3:p.Asp201Gly
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42692A>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-48+5A>G
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42692A>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*467+5A>G
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5637
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp201Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/17-15406419-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406419
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406419
    reference: chr 17
allele count: 3
allele frequency: 2.828107618921925e-5
allele num: 106078
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42680T>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*460T>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-55T>G
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42680T>G
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.461T>G
  hgvsp: ENSP00000428961.1:p.Phe154Cys
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.590T>G
  hgvsp: ENSP00000225576.3:p.Phe197Cys
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42680T>G
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19654
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13642
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3536
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Phe197Cys
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

17-15406421-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406421
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406421
    reference: chr 17
allele count: 2
allele frequency: 1.902261789267439e-5
allele num: 105138
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*458G>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.459G>C
  hgvsp: ENSP00000428961.1:p.Lys153Asn
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42678G>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42678G>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.588G>C
  hgvsp: ENSP00000225576.3:p.Lys196Asn
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-57G>C
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42678G>C
  variant of: http://identifiers.org/hgnc/42961
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18660
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7907
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 1.75e1
  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: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys196Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

17-15406422-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406422
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406422
    reference: chr 17
allele count: 1
allele frequency: 9.603011504407782e-6
allele num: 104134
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42677A>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*457A>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42677A>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-58A>C
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.458A>C
  hgvsp: ENSP00000428961.1:p.Lys153Thr
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42677A>C
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.587A>C
  hgvsp: ENSP00000225576.3:p.Lys196Thr
  variant of: http://identifiers.org/hgnc/30453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18805
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34395
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Lys196Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

17-15406423-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 15406423
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 15406423
    reference: chr 17
allele count: 2
allele frequency: 1.937121050694458e-5
allele num: 103246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000239704
  ensembl protein: ENSP00000452374
  ensembl transcript: ENST00000524205
  gene symbol: CDRT4
  hgvsc: ENST00000524205.2:c.-59A>T
  variant of: http://identifiers.org/hgnc/14383
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000225576
  ensembl transcript: ENST00000225576
  gene symbol: TVP23C
  hgvsc: ENST00000225576.3:c.586A>T
  hgvsp: ENSP00000225576.3:p.Lys196Ter
  variant of: http://identifiers.org/hgnc/30453
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000429865
  ensembl transcript: ENST00000522212
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000522212.2:c.462+42676A>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000450826
  ensembl transcript: ENST00000557349
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000557349.1:c.*456A>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000423249
  ensembl transcript: ENST00000481756
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000481756.3:c.*203+42676A>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259024
  ensembl protein: ENSP00000430143
  ensembl transcript: ENST00000518506
  gene symbol: TVP23C-CDRT4
  hgvsc: ENST00000518506.2:c.*220+42676A>T
  variant of: http://identifiers.org/hgnc/42961
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000175106
  ensembl protein: ENSP00000428961
  ensembl transcript: ENST00000519970
  gene symbol: TVP23C
  hgvsc: ENST00000519970.1:c.457A>T
  hgvsp: ENSP00000428961.1:p.Lys153Ter
  variant of: http://identifiers.org/hgnc/30453
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17633
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys196Ter
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 241
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 638
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36981
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1622
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8834
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8922
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.609424791579489e-5
allele num: 62134
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11286
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.578e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

FS
type: SiteQuality
SIO_000300: 7.642e0

VQSLOD
type: SiteQuality
SIO_000300: -1.613e0

QD
type: SiteQuality
SIO_000300: 8.050000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.168e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e-1

DP
type: SiteQuality
SIO_000300: 1.334197e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

GenotypeQuality
all individuals: 364
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5145
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2723
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4010
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.601691386103726e-5
allele num: 62434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.354627e6

MQ
type: SiteQuality
SIO_000300: 5.82e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.849e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

QD
type: SiteQuality
SIO_000300: 1.535e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

GenotypeQuality
all individuals: 229
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4121
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1522
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 618
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1242
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 9.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63232
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

QD
type: SiteQuality
SIO_000300: 4.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

FS
type: SiteQuality
SIO_000300: 3.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.273e0

DP
type: SiteQuality
SIO_000300: 1.394985e6

GenotypeQuality
all individuals: 128
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1451
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 5771
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4292
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.576143492103521e-5
allele num: 63446
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.47e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.93e-1

MQ
type: SiteQuality
SIO_000300: 5.595e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

QD
type: SiteQuality
SIO_000300: 1.308e1

DP
type: SiteQuality
SIO_000300: 1.406496e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.329e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

GenotypeQuality
all individuals: 450
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1389
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1261
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.15000315000315e-5
allele num: 63492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9362
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9420
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 8.226000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -1.495e0

MQRankSum
type: SiteQuality
SIO_000300: 9.82e-1

MQ
type: SiteQuality
SIO_000300: 5.887e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

QD
type: SiteQuality
SIO_000300: 1.573e1

DP
type: SiteQuality
SIO_000300: 1.40805e6

GenotypeQuality
all individuals: 431
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4380
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42875
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 93
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1260
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.260758414997869e-4
allele num: 9388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63542
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e-1

FS
type: SiteQuality
SIO_000300: 5.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.3e-2

DP
type: SiteQuality
SIO_000300: 1.411195e6

QD
type: SiteQuality
SIO_000300: 1.101e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.67e-1

MQ
type: SiteQuality
SIO_000300: 5.849e1

GenotypeQuality
all individuals: 43187
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 234
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.748863238894718e-4
allele num: 11436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63686
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.24e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.44e-1

FS
type: SiteQuality
SIO_000300: 4.973e0

MQRankSum
type: SiteQuality
SIO_000300: -9.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.01e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.42e-1

DP
type: SiteQuality
SIO_000300: 1.418622e6

GenotypeQuality
all individuals: 43290
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 232
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 173
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 104
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1266
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 15
allele frequency: 1.545754328112119e-3
allele num: 9704
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.45e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.61e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 1.420271e6

VQSLOD
type: SiteQuality
SIO_000300: 9.53e-1

FS
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 1.159e1

GenotypeQuality
all individuals: 189
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4540
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5864
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 9.75e1
variant carriers: 4

Latino
type: Population
allele count: 3
allele frequency: 2.623294858342078e-4
allele num: 11436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.569365976145637e-5
allele num: 63720
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9484
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.420271e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.45e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.61e-1

FS
type: SiteQuality
SIO_000300: 1.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
type: SiteQuality
SIO_000300: 1.159e1

VQSLOD
type: SiteQuality
SIO_000300: 9.53e-1

GenotypeQuality
all individuals: 836
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5875
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1275
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4550
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63764
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

DP
type: SiteQuality
SIO_000300: 1.421126e6

QD
type: SiteQuality
SIO_000300: 1.15e1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 5.437e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.586e-1

GenotypeQuality
all individuals: 651
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4448
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5899
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1553
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.743983257760725e-4
allele num: 11468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63984
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-1

QD
type: SiteQuality
SIO_000300: 1.238e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.14e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.03e0

DP
type: SiteQuality
SIO_000300: 1.430487e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.63e-1

GenotypeQuality
all individuals: 875
bin: 7.75e1
variant carriers: 17

GenotypeQuality
all individuals: 41333
bin: 6.25e1
variant carriers: 6

GenotypeQuality
all individuals: 388
bin: 3.25e1
variant carriers: 6

GenotypeQuality
all individuals: 56
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 219
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 8

GenotypeQuality
all individuals: 6043
bin: 9.75e1
variant carriers: 5820

GenotypeQuality
all individuals: 69
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 104
bin: 8.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1176
bin: 7.25e1
variant carriers: 10

GenotypeQuality
all individuals: 129
bin: 4.75e1
variant carriers: 5

Other
type: Population
allele count: 41
allele frequency: 4.975728155339806e-2
allele num: 824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4274
allele frequency: 6.611391269374749e-2
allele num: 64646
num of homozygotes: 142

Latino
type: Population
allele count: 624
allele frequency: 5.426086956521739e-2
allele num: 11500
num of homozygotes: 16

African
type: Population
allele count: 145
allele frequency: 1.497933884297521e-2
allele num: 9680
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 367
allele frequency: 5.57411907654921e-2
allele num: 6584
num of homozygotes: 12

East Asian
type: Population
allele count: 135
allele frequency: 1.568308550185873e-2
allele num: 8608
num of homozygotes: 2

South Asian
type: Population
allele count: 477
allele frequency: 4.132016632016632e-2
allele num: 11544
num of homozygotes: 11

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

FS
type: SiteQuality
SIO_000300: 5.35e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

DP
type: SiteQuality
SIO_000300: 1.598232e6

QD
type: SiteQuality
SIO_000300: 1.337e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.12e-2

GenotypeQuality
all individuals: 452
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 9.75e1
variant carriers: 26

GenotypeQuality
all individuals: 135
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5966
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

Latino
type: Population
allele count: 26
allele frequency: 2.260869565217391e-3
allele num: 11500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64738
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11694
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.934e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.49e-1

QD
type: SiteQuality
SIO_000300: 1.229e1

MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

FS
type: SiteQuality
SIO_000300: 2.539e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

DP
type: SiteQuality
SIO_000300: 1.454813e6

GenotypeQuality
all individuals: 138
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3624
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5968
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45585
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 1.027749229188078e-4
allele num: 9730
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64774
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.943e0

VQSLOD
type: SiteQuality
SIO_000300: -1.859e0

QD
type: SiteQuality
SIO_000300: 1.162e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 1.375e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.56e-1

MQ
type: SiteQuality
SIO_000300: 5.743e1

DP
type: SiteQuality
SIO_000300: 1.455769e6

MQRankSum
type: SiteQuality
SIO_000300: -7.56e-1

GenotypeQuality
all individuals: 203
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 456
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 359
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 8.200754469411185e-5
allele num: 12194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64850
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.883e1

VQSLOD
type: SiteQuality
SIO_000300: -4.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.259e1

FS
type: SiteQuality
SIO_000300: 7.145e0

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.459759e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

GenotypeQuality
all individuals: 297
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
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GenotypeQuality
all individuals: 283
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45774
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1085
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541117001602762e-5
allele num: 64888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.66e-1

DP
type: SiteQuality
SIO_000300: 1.46044e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.575e1

GenotypeQuality
all individuals: 197
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1067
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6024
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46285
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 217
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 4.054327995134807e-4
allele num: 9866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.550970873786408e-4
allele num: 6592
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.47041471455839e-4
allele num: 11526
num of homozygotes: 0

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

South Asian
type: Population
allele count: 12
allele frequency: 9.172909341079345e-4
allele num: 13082
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 43
allele frequency: 6.599545705690957e-4
allele num: 65156
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

FS
type: SiteQuality
SIO_000300: 5.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 1.47429e6

QD
type: SiteQuality
SIO_000300: 1.275e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

GenotypeQuality
all individuals: 185
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
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GenotypeQuality
all individuals: 6099
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variant carriers: 0

GenotypeQuality
all individuals: 18
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GenotypeQuality
all individuals: 133
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
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variant carriers: 1

GenotypeQuality
all individuals: 1412
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47054
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65468
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13962
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9928
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.93e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 1.484597e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.376e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

FS
type: SiteQuality
SIO_000300: 1.0888e1

VQSLOD
type: SiteQuality
SIO_000300: -1.467e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 8.83e0

GenotypeQuality
all individuals: 80
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 131
bin: 8.75e1
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GenotypeQuality
all individuals: 1415
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1950
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 2.75e1
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GenotypeQuality
all individuals: 6114
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1087
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47512
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65652
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.59920291110726e-4
allele num: 11542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9956
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.588e0

QD
type: SiteQuality
SIO_000300: 8.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.896e1

DP
type: SiteQuality
SIO_000300: 1.492241e6

VQSLOD
type: SiteQuality
SIO_000300: -1.814e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.149e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.19e-1

GenotypeQuality
all individuals: 68
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
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GenotypeQuality
all individuals: 131
bin: 9.25e1
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GenotypeQuality
all individuals: 6159
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GenotypeQuality
all individuals: 261
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GenotypeQuality
all individuals: 1423
bin: 7.25e1
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GenotypeQuality
all individuals: 132
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GenotypeQuality
all individuals: 1092
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GenotypeQuality
all individuals: 47717
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variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9984
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519895431194334e-5
allele num: 65794
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.067e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.069e0

VQSLOD
type: SiteQuality
SIO_000300: -1.073e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.876e0

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.26e0

DP
type: SiteQuality
SIO_000300: 1.496498e6

GenotypeQuality
all individuals: 47780
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 145
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GenotypeQuality
all individuals: 280
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 439
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GenotypeQuality
all individuals: 295
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variant carriers: 0

GenotypeQuality
all individuals: 131
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GenotypeQuality
all individuals: 1092
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.699718611818304e-5
allele num: 14926
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65802
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9990
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.881e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.644e0

VQSLOD
type: SiteQuality
SIO_000300: -1.711e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 1.2506e1

MQRankSum
type: SiteQuality
SIO_000300: -1.026e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.04e-1

DP
type: SiteQuality
SIO_000300: 1.497776e6

QD
type: SiteQuality
SIO_000300: 1.814e1

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 131
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6146
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.661337596589395e-5
allele num: 15012
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9994
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65808
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 1.499089e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.796e0

QD
type: SiteQuality
SIO_000300: 1.814e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: -2.372e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 5.881e1

FS
type: SiteQuality
SIO_000300: 1.2506e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.11e0

GenotypeQuality
all individuals: 204
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 122
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GenotypeQuality
all individuals: 1098
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10004
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15162
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516944267467613e-5
allele num: 65922
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.124e0

QD
type: SiteQuality
SIO_000300: 1.093e1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: -1.625e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.09e-1

MQ
type: SiteQuality
SIO_000300: 5.775e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e0

DP
type: SiteQuality
SIO_000300: 1.501312e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

GenotypeQuality
all individuals: 48002
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 442
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GenotypeQuality
all individuals: 261
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 7.25e1
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GenotypeQuality
all individuals: 1101
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variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 130
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15214
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10004
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.515610791148833e-4
allele num: 6598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51666818333485e-5
allele num: 65934
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.144e0

DP
type: SiteQuality
SIO_000300: 1.501855e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.142e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.09e0

MQ
type: SiteQuality
SIO_000300: 5.848e1

MQRankSum
type: SiteQuality
SIO_000300: 2.76e0

QD
type: SiteQuality
SIO_000300: 9.380000000000001e0

GenotypeQuality
all individuals: 137
bin: 5.75e1
variant carriers: 10

GenotypeQuality
all individuals: 1276
bin: 7.25e1
variant carriers: 10

GenotypeQuality
all individuals: 70
bin: 9.25e1
variant carriers: 15

GenotypeQuality
all individuals: 180
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 5845
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variant carriers: 8

GenotypeQuality
all individuals: 1309
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 85
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variant carriers: 12

GenotypeQuality
all individuals: 260
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 2305
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variant carriers: 2228

GenotypeQuality
all individuals: 925
bin: 7.75e1
variant carriers: 16

South Asian
type: Population
allele count: 4
allele frequency: 2.585315408479835e-4
allele num: 15472
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 7.865168539325843e-3
allele num: 890
num of homozygotes: 0

Latino
type: Population
allele count: 125
allele frequency: 1.082626017668457e-2
allele num: 11546
num of homozygotes: 0

African
type: Population
allele count: 2465
allele frequency: 2.435289468484489e-1
allele num: 10122
num of homozygotes: 301

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 47
allele frequency: 7.119270501984307e-4
allele num: 66018
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.458e1

MQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.013e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.8e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

DP
type: SiteQuality
SIO_000300: 1.547721e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

MQ
type: SiteQuality
SIO_000300: 5.888e1

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
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variant carriers: 0

GenotypeQuality
all individuals: 293
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GenotypeQuality
all individuals: 248
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GenotypeQuality
all individuals: 48235
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variant carriers: 0

GenotypeQuality
all individuals: 1017
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variant carriers: 0

GenotypeQuality
all individuals: 91
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GenotypeQuality
all individuals: 395
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variant carriers: 0

GenotypeQuality
all individuals: 356
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GenotypeQuality
all individuals: 68
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511076188461422e-5
allele num: 66178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16132
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.514442e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

FS
type: SiteQuality
SIO_000300: 1.134e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

QD
type: SiteQuality
SIO_000300: 9.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e-1

GenotypeQuality
all individuals: 340
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 237
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variant carriers: 0

GenotypeQuality
all individuals: 276
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variant carriers: 0

GenotypeQuality
all individuals: 204
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GenotypeQuality
all individuals: 1016
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GenotypeQuality
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GenotypeQuality
all individuals: 159
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GenotypeQuality
all individuals: 66
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variant carriers: 0

GenotypeQuality
all individuals: 232
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variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.624277456647399e-4
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10052
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

VQSLOD
type: SiteQuality
SIO_000300: -1.49e0

MQ
type: SiteQuality
SIO_000300: 5.847e1

FS
type: SiteQuality
SIO_000300: 5.567e0

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.338e1

DP
type: SiteQuality
SIO_000300: 1.516401e6

GenotypeQuality
all individuals: 159
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 135
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
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variant carriers: 0

GenotypeQuality
all individuals: 1047
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GenotypeQuality
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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: 341
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GenotypeQuality
all individuals: 1394
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50993537476596e-5
allele num: 66228
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.844564682734874e-4
allele num: 16264
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -3.53e-1

MQ
type: SiteQuality
SIO_000300: 5.927e1

QD
type: SiteQuality
SIO_000300: 1.26e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.75e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.811e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.629e0

FS
type: SiteQuality
SIO_000300: 1.2569e1

DP
type: SiteQuality
SIO_000300: 1.516247e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
all individuals: 1016
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 220
bin: 3.75e1
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GenotypeQuality
all individuals: 75
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GenotypeQuality
all individuals: 6212
bin: 6.75e1
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GenotypeQuality
all individuals: 280
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
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variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 9.75e1
variant carriers: 4

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10048
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16308
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.528438594372661e-5
allele num: 66248
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.51641e6

FS
type: SiteQuality
SIO_000300: 8.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.079e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.82e-1

QD
type: SiteQuality
SIO_000300: 1.344e1

MQ
type: SiteQuality
SIO_000300: 5.89e1

GenotypeQuality
all individuals: 209
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 64
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GenotypeQuality
all individuals: 1121
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GenotypeQuality
all individuals: 325
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GenotypeQuality
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GenotypeQuality
all individuals: 1373
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GenotypeQuality
all individuals: 89
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variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 4.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66244
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.998e0

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.207e1

DP
type: SiteQuality
SIO_000300: 1.515535e6

VQSLOD
type: SiteQuality
SIO_000300: 8.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.42e-1

MQ
type: SiteQuality
SIO_000300: 5.897e1

GenotypeQuality
all individuals: 232
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 297
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
all individuals: 159
bin: 9.75e1
variant carriers: 1

South Asian
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allele count: 1
allele frequency: 6.128201985537444e-5
allele num: 16318
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10038
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: 902
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66244
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.897e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.42e-1

ReadPosRankSum
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VQSLOD
type: SiteQuality
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MQRankSum
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BaseQRankSum
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SIO_000300: -1.998e0

QD
type: SiteQuality
SIO_000300: 1.207e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.515535e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10058
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508750754375377e-5
allele num: 66280
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.8991e1

MQ
type: SiteQuality
SIO_000300: 5.802e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.744e1

MQRankSum
type: SiteQuality
SIO_000300: -5.27e-1

DP
type: SiteQuality
SIO_000300: 1.515044e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.163e0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66292
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11558
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

FS
type: SiteQuality
SIO_000300: 1.3142e1

QD
type: SiteQuality
SIO_000300: 1.247e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.98e-1

MQ
type: SiteQuality
SIO_000300: 5.845e1

DP
type: SiteQuality
SIO_000300: 1.515315e6

VQSLOD
type: SiteQuality
SIO_000300: -1.604e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.52e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509251713000694e-5
allele num: 66258
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.958175662218681e-5
allele num: 10042
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.32e-1

FS
type: SiteQuality
SIO_000300: 1.457e0

DP
type: SiteQuality
SIO_000300: 1.516985e6

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.348e0

QD
type: SiteQuality
SIO_000300: 1.309e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

GenotypeQuality
all individuals: 214
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 15
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66302
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.109481915933529e-5
allele num: 16368
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10070
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.075e1

VQSLOD
type: SiteQuality
SIO_000300: -1.434e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.514622e6

MQ
type: SiteQuality
SIO_000300: 5.863e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5777
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66060
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.003613006824568e-4
allele num: 9964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

FS
type: SiteQuality
SIO_000300: 1.117e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.612e0

MQ
type: SiteQuality
SIO_000300: 5.789e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.91e0

QD
type: SiteQuality
SIO_000300: 1.619e1

DP
type: SiteQuality
SIO_000300: 1.497217e6

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9980
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66000
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

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

South Asian
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allele count: 4
allele frequency: 2.440512507626602e-4
allele num: 16390
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.96e-1

FS
type: SiteQuality
SIO_000300: 1.4649e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 1.477486e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.365e1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514508996183437e-5
allele num: 66028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6576
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: 4.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.474906e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

QD
type: SiteQuality
SIO_000300: 1.402e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65930
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.107243190423842e-5
allele num: 16374
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6500
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Latino
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allele frequency: 0.0e0
allele num: 11500
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African
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Other
type: Population
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allele num: 900
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East Asian
type: Population
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

FS
type: SiteQuality
SIO_000300: 2.5731e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

QD
type: SiteQuality
SIO_000300: 2.87e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
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African
type: Population
allele count: 2
allele frequency: 1.988071570576541e-4
allele num: 10060
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66134
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.239e1

FS
type: SiteQuality
SIO_000300: 2.294e0

VQSLOD
type: SiteQuality
SIO_000300: 7.09e-1

MQ
type: SiteQuality
SIO_000300: 5.889e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e-1

DP
type: SiteQuality
SIO_000300: 1.484056e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.023431594860166e-5
allele num: 66150
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.486367e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

FS
type: SiteQuality
SIO_000300: 7.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.76e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.22e-1

QD
type: SiteQuality
SIO_000300: 1.539e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10134
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.473830477072719e-4
allele num: 8636
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66262
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.8e-1

FS
type: SiteQuality
SIO_000300: 1.124e0

MQ
type: SiteQuality
SIO_000300: 5.888e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.97e-1

QD
type: SiteQuality
SIO_000300: 1.076e1

DP
type: SiteQuality
SIO_000300: 1.495074e6

VQSLOD
type: SiteQuality
SIO_000300: -2.386e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.32e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.680555555555556e-5
allele num: 11520
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.718e0

MQ
type: SiteQuality
SIO_000300: 5.778e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.047e0

MQRankSum
type: SiteQuality
SIO_000300: 3.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.206e0

FS
type: SiteQuality
SIO_000300: 3.91e0

QD
type: SiteQuality
SIO_000300: 9.84e0

DP
type: SiteQuality
SIO_000300: 1.502237e6

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506024096385542e-5
allele num: 66400
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

FS
type: SiteQuality
SIO_000300: 7.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.899e0

QD
type: SiteQuality
SIO_000300: 1.317e1

DP
type: SiteQuality
SIO_000300: 1.504847e6

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66472
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.282e1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.511e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.15e0

GenotypeQuality
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variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503714174009804e-5
allele num: 66502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
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African
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allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
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SIO_000300: -1.276e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66516
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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Other
type: Population
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South Asian
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VQSLOD
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QD
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FS
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DP
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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MQ
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SIO_000300: 5.967e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
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Other
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East Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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Latino
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allele frequency: 8.671522719389525e-5
allele num: 11532
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQ
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BaseQRankSum
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MQRankSum
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FS
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ReadPosRankSum
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DP
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QD
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ClippingRankSum
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 11534
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66512
num of homozygotes: 0

African
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European (Finnish)
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Other
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allele num: 900
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South Asian
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allele frequency: 6.085686465433301e-5
allele num: 16432
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ClippingRankSum
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InbreedingCoeff
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MQ
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DP
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MQRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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FS
type: SiteQuality
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VQSLOD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 134
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 109
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5342
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 985
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503307276007216e-5
allele num: 66520
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

FS
type: SiteQuality
SIO_000300: 5.424e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.514127e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.78e-1

QD
type: SiteQuality
SIO_000300: 1.15e1

GenotypeQuality
all individuals: 220
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52209
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 109
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66520
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.826150474799123e-4
allele num: 16428
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.424e0

DP
type: SiteQuality
SIO_000300: 1.514127e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.15e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 985
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5338
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 9.25e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66524
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.472222222222222e-4
allele num: 8640
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.514246e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

FS
type: SiteQuality
SIO_000300: 5.152e0

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 446
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5328
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.667440061871617e-5
allele num: 10344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.5e0

QD
type: SiteQuality
SIO_000300: 8.31e0

VQSLOD
type: SiteQuality
SIO_000300: -9.104e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.51e-1

DP
type: SiteQuality
SIO_000300: 1.514656e6

FS
type: SiteQuality
SIO_000300: 8.279999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e-1

MQ
type: SiteQuality
SIO_000300: 5.184e1

GenotypeQuality
all individuals: 448
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52217
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 58
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.682416731216112e-5
allele num: 10328
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.28e-1

FS
type: SiteQuality
SIO_000300: 1.704e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.515224e6

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 5.92e1

MQRankSum
type: SiteQuality
SIO_000300: 8.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.03e-1

QD
type: SiteQuality
SIO_000300: 1.109e1

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

GenotypeQuality
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5310
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 95
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006976184748617e-5
allele num: 66512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.704e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.03e-1

QD
type: SiteQuality
SIO_000300: 1.109e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.515224e6

MQ
type: SiteQuality
SIO_000300: 5.92e1

MQRankSum
type: SiteQuality
SIO_000300: 8.85e-1

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 124
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 9.75e1
variant carriers: 506

GenotypeQuality
all individuals: 194
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 948
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 51915
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.099048548426445e-5
allele num: 16396
num of homozygotes: 0

Latino
type: Population
allele count: 32
allele frequency: 2.775850104094379e-3
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.257200469497698e-4
allele num: 66454
num of homozygotes: 0

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

African
type: Population
allele count: 469
allele frequency: 4.543693082735904e-2
allele num: 10322
num of homozygotes: 9

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.6e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e-1

QD
type: SiteQuality
SIO_000300: 1.398e1

DP
type: SiteQuality
SIO_000300: 1.522504e6

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

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

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 946
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51909
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9392
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.726003490401397e-5
allele num: 11460
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e0

DP
type: SiteQuality
SIO_000300: 1.522741e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 5.863e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

QD
type: SiteQuality
SIO_000300: 1.341e1

VQSLOD
type: SiteQuality
SIO_000300: 4.67e-1

GenotypeQuality
all individuals: 103
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 59
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 82
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505117399157134e-5
allele num: 66440
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

FS
type: SiteQuality
SIO_000300: 5.649999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 1.508878e6

MQRankSum
type: SiteQuality
SIO_000300: -2.02e-1

QD
type: SiteQuality
SIO_000300: 1.21e1

MQ
type: SiteQuality
SIO_000300: 5.936e1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

GenotypeQuality
all individuals: 123
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 84
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 953
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.606879606879607e-4
allele num: 6512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
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 count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.506205566935775e-5
allele num: 66392
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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QD
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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MQ
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BaseQRankSum
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SIO_000300: -2.079e0

MQRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

FS
type: SiteQuality
SIO_000300: 6.27e-1

DP
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 9.733307377846993e-5
allele num: 10274
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Latino
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allele frequency: 0.0e0
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DP
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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FS
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQ
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QD
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 1.739130434782609e-4
allele num: 11500
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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QD
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MQ
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ReadPosRankSum
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FS
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.514967882680887e-5
allele num: 66008
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.02e-1

MQ
type: SiteQuality
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FS
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QD
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: 3.03e0

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.25e-1

DP
type: SiteQuality
SIO_000300: 1.494635e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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allele count: 1
allele frequency: 9.846396218983852e-5
allele num: 10156
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66022
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Other
type: Population
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.019e1

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

FS
type: SiteQuality
SIO_000300: 6.658e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.19e-1

DP
type: SiteQuality
SIO_000300: 1.494265e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.41e-1

QD
type: SiteQuality
SIO_000300: 1.06e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.515335192144502e-5
allele num: 65992
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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Latino
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South Asian
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Other
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 1.524e0

MQ
type: SiteQuality
SIO_000300: 5.916e1

InbreedingCoeff
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.92e-1

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

East Asian
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allele frequency: 1.16767865483419e-4
allele num: 8564
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.517358582180141e-5
allele num: 65904
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African
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allele frequency: 0.0e0
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Latino
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.99e-1

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

European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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Other
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Latino
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East Asian
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QD
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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FS
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MQ
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ReadPosRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

DP
type: SiteQuality
SIO_000300: 1.416732e6

GenotypeQuality
all individuals: 1527
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 115
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36238
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8852
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.924573243350536e-5
allele num: 10076
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.403096818104475e-5
allele num: 58770
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14666
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.53e-1

DP
type: SiteQuality
SIO_000300: 1.267447e6

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.48e-1

QD
type: SiteQuality
SIO_000300: 1.151e1

GenotypeQuality
all individuals: 102
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1445
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14400
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35680
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3459
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 948
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5224
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.370801919122687e-4
allele num: 14590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8756
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9944
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.685e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

VQSLOD
type: SiteQuality
SIO_000300: 7.44e-1

QD
type: SiteQuality
SIO_000300: 1.087e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.013e0

MQRankSum
type: SiteQuality
SIO_000300: 7.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.2e-1

DP
type: SiteQuality
SIO_000300: 1.252026e6

GenotypeQuality
all individuals: 414
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1704
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3405
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1033
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.732681844959629e-5
allele num: 57714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8676
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7498
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.234628e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

QD
type: SiteQuality
SIO_000300: 1.171e1

VQSLOD
type: SiteQuality
SIO_000300: 6.48e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1