12-51639965-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51639965
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51639965
    reference: chr 12
allele count: 1
allele frequency: 8.753654650816716e-6
allele num: 114238
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.116-62C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*121-62C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.116-62C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000408251
  ensembl transcript: ENST00000425012
  gene symbol: DAZAP2
  hgvsc: ENST00000425012.2:c.*37G>A
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.74-62C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.116-62C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.116-62C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5065G>A
  variant of: http://identifiers.org/hgnc/2684
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10940
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7632
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4552
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

12-51639978-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51639978
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51639978
    reference: chr 12
allele count: 10
allele frequency: 8.930644613928234e-5
allele num: 111974
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.116-75A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5078T>C
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*121-75A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.74-75A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000408251
  ensembl transcript: ENST00000425012
  gene symbol: DAZAP2
  hgvsc: ENST00000425012.2:c.*50T>C
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.116-75A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.116-75A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.116-75A>G
  variant of: http://identifiers.org/hgnc/26918
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7684
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12028
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4878
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13256
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7307
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

12-51640480-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640480
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640480
    reference: chr 12
allele count: 5
allele frequency: 2.140594228957959e-4
allele num: 23358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.115+55C>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*120+55C>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.73+55C>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.*41C>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.*41C>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5580G>T
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000408251
  ensembl transcript: ENST00000425012
  gene symbol: DAZAP2
  hgvsc: ENST00000425012.2:c.*552G>T
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.115+55C>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.115+55C>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.115+55C>A
  variant of: http://identifiers.org/hgnc/26918
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26767
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21102
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7085
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

12-51640488-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640488
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640488
    reference: chr 12
allele count: 95
allele frequency: 3.930492345883326e-3
allele num: 24170
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.115+47A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.115+47A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.*33A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.73+47A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000408251
  ensembl transcript: ENST00000425012
  gene symbol: DAZAP2
  hgvsc: ENST00000425012.2:c.*560T>C
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*120+47A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.115+47A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.*33A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.115+47A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5588T>C
  variant of: http://identifiers.org/hgnc/2684
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19268
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6208
  bin: 1.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28238
  bin: 7.5e0
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 1.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2428
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15366
  bin: 7.5e0
  variant carriers: 2
num of homozygotes: 2
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-51640490-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640490
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640490
    reference: chr 12
allele count: 2
allele frequency: 8.254230293025175e-5
allele num: 24230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.115+45G>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.73+45G>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.*31G>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.*31G>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.115+45G>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000408251
  ensembl transcript: ENST00000425012
  gene symbol: DAZAP2
  hgvsc: ENST00000425012.2:c.*562C>A
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5590C>A
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*120+45G>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.115+45G>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.115+45G>T
  variant of: http://identifiers.org/hgnc/26918
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18480
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28903
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6236
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22351
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

12-51640497-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640497
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640497
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 25634
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.115+38A>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*120+38A>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.73+38A>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000408251
  ensembl transcript: ENST00000425012
  gene symbol: DAZAP2
  hgvsc: ENST00000425012.2:c.*569T>G
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.115+38A>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.115+38A>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.*24A>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.115+38A>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5597T>G
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.*24A>C
  variant of: http://identifiers.org/hgnc/26918
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 31375
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15596
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13438
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2412
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/12-51640503-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640503
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640503
    reference: chr 12
allele count: 1
allele frequency: 3.688947912055482e-5
allele num: 27108
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.*18T>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.73+32T>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*120+32T>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.*18T>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5603A>C
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.115+32T>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.115+32T>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.115+32T>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.115+32T>G
  variant of: http://identifiers.org/hgnc/26918
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12702
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33538
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29851
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP

12-51640509-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640509
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640509
    reference: chr 12
allele count: 2
allele frequency: 6.866245536940401e-5
allele num: 29128
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.73+26G>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.115+26G>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.*12G>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.115+26G>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.115+26G>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5609C>G
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*120+26G>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.*12G>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.115+26G>C
  variant of: http://identifiers.org/hgnc/26918
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6101
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34963
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32258
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum

12-51640519-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640519
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640519
    reference: chr 12
allele count: 1
allele frequency: 3.014408874419726e-5
allele num: 33174
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.115+16C>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.115+16C>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5619G>T
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*120+16C>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.*2C>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.115+16C>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.73+16C>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.*2C>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.115+16C>A
  variant of: http://identifiers.org/hgnc/26918
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7068
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5705
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6777
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3178
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-51640520-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640520
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640520
    reference: chr 12
allele count: 1
allele frequency: 2.981692408611128e-5
allele num: 33538
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.*1G>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5620C>T
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.115+15G>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.73+15G>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.115+15G>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.*1G>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.115+15G>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.115+15G>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*120+15G>A
  variant of: http://identifiers.org/hgnc/26918
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5855
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

12-51640528-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640528
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640529
    reference: chr 12
allele count: 1
allele frequency: 2.672367717797969e-5
allele num: 37420
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.121dupA
  hgvsp: ENSP00000474426.1:p.Arg41LysfsTer26
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.115+6dupA
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.121dupA
  hgvsp: ENSP00000474930.1:p.Arg41LysfsTer26
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.115+6dupA
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5629dupT
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.115+6dupA
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.73+6dupA
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*120+6dupA
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.115+6dupA
  variant of: http://identifiers.org/hgnc/26918
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35426
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg41LysfsTer26
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

12-51640529-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640529
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640529
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 38028
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5629T>C
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.121A>G
  hgvsp: ENSP00000474930.1:p.Arg41Gly
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.115+6A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*120+6A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.115+6A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.73+6A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.115+6A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.115+6A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.121A>G
  hgvsp: ENSP00000474426.1:p.Arg41Gly
  variant of: http://identifiers.org/hgnc/26918
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36046
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4889
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg41Gly
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-51640531-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640531
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640531
    reference: chr 12
allele count: 31
allele frequency: 7.968332305161422e-4
allele num: 38904
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.115+4A>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*120+4A>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.73+4A>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.119A>T
  hgvsp: ENSP00000474426.1:p.Asn40Ile
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5631T>A
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.115+4A>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.115+4A>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.119A>T
  hgvsp: ENSP00000474930.1:p.Asn40Ile
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.115+4A>T
  variant of: http://identifiers.org/hgnc/26918
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35877
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8289
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4783
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3205
  bin: 9.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.75e1
  variant carriers: 1
hgvs: p.Asn40Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

12-51640541-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640541
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640541
    reference: chr 12
allele count: 1
allele frequency: 2.298005331372369e-5
allele num: 43516
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*114A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.109A>G
  hgvsp: ENSP00000381471.2:p.Ile37Val
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.109A>G
  hgvsp: ENSP00000474426.1:p.Ile37Val
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.109A>G
  hgvsp: ENSP00000474930.1:p.Ile37Val
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.109A>G
  hgvsp: ENSP00000475068.1:p.Ile37Val
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.67A>G
  hgvsp: ENSP00000475135.1:p.Ile23Val
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.109A>G
  hgvsp: ENSP00000474212.1:p.Ile37Val
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.109A>G
  hgvsp: ENSP00000474892.1:p.Ile37Val
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5641T>C
  variant of: http://identifiers.org/hgnc/2684
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile37Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

12-51640541-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640541
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640541
    reference: chr 12
allele count: 1
allele frequency: 2.298005331372369e-5
allele num: 43516
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.109A>C
  hgvsp: ENSP00000474426.1:p.Ile37Leu
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.109A>C
  hgvsp: ENSP00000381471.2:p.Ile37Leu
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.109A>C
  hgvsp: ENSP00000474212.1:p.Ile37Leu
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.67A>C
  hgvsp: ENSP00000475135.1:p.Ile23Leu
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.109A>C
  hgvsp: ENSP00000474892.1:p.Ile37Leu
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.109A>C
  hgvsp: ENSP00000475068.1:p.Ile37Leu
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.109A>C
  hgvsp: ENSP00000474930.1:p.Ile37Leu
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5641T>G
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*114A>C
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10627
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3179
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile37Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

12-51640544-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640544
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640544
    reference: chr 12
allele count: 3
allele frequency: 6.689261505529789e-5
allele num: 44848
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.106C>G
  hgvsp: ENSP00000475068.1:p.Leu36Val
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.106C>G
  hgvsp: ENSP00000474930.1:p.Leu36Val
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5644G>C
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.106C>G
  hgvsp: ENSP00000474426.1:p.Leu36Val
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.64C>G
  hgvsp: ENSP00000475135.1:p.Leu22Val
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*111C>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.106C>G
  hgvsp: ENSP00000474212.1:p.Leu36Val
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.106C>G
  hgvsp: ENSP00000381471.2:p.Leu36Val
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.106C>G
  hgvsp: ENSP00000474892.1:p.Leu36Val
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34375
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Leu36Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

12-51640551-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640551
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640551
    reference: chr 12
allele count: 1
allele frequency: 2.118733844654435e-5
allele num: 47198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5651G>A
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.57C>T
  hgvsp: ENST00000605627.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.99C>T
  hgvsp: ENST00000603798.1:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.99C>T
  hgvsp: ENST00000398453.3:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.99C>T
  hgvsp: ENST00000604188.1:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*104C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.99C>T
  hgvsp: ENST00000603864.1:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.99C>T
  hgvsp: ENST00000605426.1:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.99C>T
  hgvsp: ENST00000603838.1:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2973
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser33Ser
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

12-51640553-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640553
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640553
    reference: chr 12
allele count: 12
allele frequency: 2.509200401472064e-4
allele num: 47824
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5653T>C
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.97A>G
  hgvsp: ENSP00000381471.2:p.Ser33Gly
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.55A>G
  hgvsp: ENSP00000475135.1:p.Ser19Gly
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.97A>G
  hgvsp: ENSP00000474930.1:p.Ser33Gly
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.97A>G
  hgvsp: ENSP00000474892.1:p.Ser33Gly
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.97A>G
  hgvsp: ENSP00000474426.1:p.Ser33Gly
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.97A>G
  hgvsp: ENSP00000475068.1:p.Ser33Gly
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*102A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.97A>G
  hgvsp: ENSP00000474212.1:p.Ser33Gly
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12109
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33380
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser33Gly
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

12-51640554-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640554
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640554
    reference: chr 12
allele count: 1
allele frequency: 2.080559254327563e-5
allele num: 48064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.96C>T
  hgvsp: ENST00000398453.3:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.96C>T
  hgvsp: ENST00000603838.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5654G>A
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*101C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.54C>T
  hgvsp: ENST00000605627.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.96C>T
  hgvsp: ENST00000603798.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.96C>T
  hgvsp: ENST00000603864.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.96C>T
  hgvsp: ENST00000605426.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.96C>T
  hgvsp: ENST00000604188.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 33248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2877
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala32Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

12-51640562-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640562
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640562
    reference: chr 12
allele count: 1
allele frequency: 2.033512282414186e-5
allele num: 49176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.46G>A
  hgvsp: ENSP00000475135.1:p.Asp16Asn
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*93G>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.88G>A
  hgvsp: ENSP00000474426.1:p.Asp30Asn
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.88G>A
  hgvsp: ENSP00000474930.1:p.Asp30Asn
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.88G>A
  hgvsp: ENSP00000381471.2:p.Asp30Asn
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5662C>T
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.88G>A
  hgvsp: ENSP00000474212.1:p.Asp30Asn
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.88G>A
  hgvsp: ENSP00000474892.1:p.Asp30Asn
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.88G>A
  hgvsp: ENSP00000475068.1:p.Asp30Asn
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12625
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp30Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

12-51640574-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640574
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640574
    reference: chr 12
allele count: 1
allele frequency: 2.06782464846981e-5
allele num: 48360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.76C>T
  hgvsp: ENST00000398453.3:c.76C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.76C>T
  hgvsp: ENST00000605426.1:c.76C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.34C>T
  hgvsp: ENST00000605627.1:c.34C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.76C>T
  hgvsp: ENST00000603864.1:c.76C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*81C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.76C>T
  hgvsp: ENST00000603798.1:c.76C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.76C>T
  hgvsp: ENST00000604188.1:c.76C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.76C>T
  hgvsp: ENST00000603838.1:c.76C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5674G>A
  variant of: http://identifiers.org/hgnc/2684
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6882
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32055
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3178
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu26Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

12-51640595-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640595
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640595
    reference: chr 12
allele count: 1
allele frequency: 2.167786689789725e-5
allele num: 46130
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*60A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.55A>G
  hgvsp: ENSP00000474212.1:p.Ile19Val
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.55A>G
  hgvsp: ENSP00000475068.1:p.Ile19Val
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.55A>G
  hgvsp: ENSP00000474892.1:p.Ile19Val
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5695T>C
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.13A>G
  hgvsp: ENSP00000475135.1:p.Ile5Val
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.55A>G
  hgvsp: ENSP00000474426.1:p.Ile19Val
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.55A>G
  hgvsp: ENSP00000474930.1:p.Ile19Val
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.55A>G
  hgvsp: ENSP00000381471.2:p.Ile19Val
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8682
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6065
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile19Val
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum

12-51640597-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640597
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640597
    reference: chr 12
allele count: 1
allele frequency: 2.196064652143359e-5
allele num: 45536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.53C>T
  hgvsp: ENSP00000474930.1:p.Pro18Leu
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.53C>T
  hgvsp: ENSP00000474892.1:p.Pro18Leu
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.53C>T
  hgvsp: ENSP00000475068.1:p.Pro18Leu
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*58C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.53C>T
  hgvsp: ENSP00000474212.1:p.Pro18Leu
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5697G>A
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.53C>T
  hgvsp: ENSP00000474426.1:p.Pro18Leu
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.11C>T
  hgvsp: ENSP00000475135.1:p.Pro4Leu
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.53C>T
  hgvsp: ENSP00000381471.2:p.Pro18Leu
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30865
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8871
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro18Leu
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

12-51640603-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640603
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640603
    reference: chr 12
allele count: 2
allele frequency: 4.547108039287013e-5
allele num: 43984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.47C>T
  hgvsp: ENSP00000381471.2:p.Thr16Ile
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.47C>T
  hgvsp: ENSP00000474426.1:p.Thr16Ile
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.47C>T
  hgvsp: ENSP00000474212.1:p.Thr16Ile
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.47C>T
  hgvsp: ENSP00000474892.1:p.Thr16Ile
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.47C>T
  hgvsp: ENSP00000474930.1:p.Thr16Ile
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.47C>T
  hgvsp: ENSP00000475068.1:p.Thr16Ile
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.5C>T
  hgvsp: ENSP00000475135.1:p.Thr2Ile
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*52C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5703G>A
  variant of: http://identifiers.org/hgnc/2684
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29981
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9394
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7886
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8298
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr16Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-51640604-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640604
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640604
    reference: chr 12
allele count: 5
allele frequency: 1.155374803586283e-4
allele num: 43276
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5704T>C
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.4A>G
  hgvsp: ENSP00000475135.1:p.Thr2Ala
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.46A>G
  hgvsp: ENSP00000381471.2:p.Thr16Ala
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.46A>G
  hgvsp: ENSP00000475068.1:p.Thr16Ala
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.46A>G
  hgvsp: ENSP00000474930.1:p.Thr16Ala
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.46A>G
  hgvsp: ENSP00000474212.1:p.Thr16Ala
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.46A>G
  hgvsp: ENSP00000474892.1:p.Thr16Ala
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.46A>G
  hgvsp: ENSP00000474426.1:p.Thr16Ala
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*51A>G
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9529
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 29564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8567
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr16Ala
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

12-51640604-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640604
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640604
    reference: chr 12
allele count: 1
allele frequency: 2.310749607172567e-5
allele num: 43276
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.4A>C
  hgvsp: ENSP00000475135.1:p.Thr2Pro
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.46A>C
  hgvsp: ENSP00000474930.1:p.Thr16Pro
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*51A>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.46A>C
  hgvsp: ENSP00000474426.1:p.Thr16Pro
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.46A>C
  hgvsp: ENSP00000474892.1:p.Thr16Pro
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5704T>G
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.46A>C
  hgvsp: ENSP00000475068.1:p.Thr16Pro
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.46A>C
  hgvsp: ENSP00000381471.2:p.Thr16Pro
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.46A>C
  hgvsp: ENSP00000474212.1:p.Thr16Pro
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8567
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9529
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9037
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr16Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

12-51640610-GTTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640610
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640607
    reference: chr 12
allele count: 143
allele frequency: 3.435187854328817e-3
allele num: 41628
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-6_-4delGAA
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.37_39delGAA
  hgvsp: ENSP00000381471.2:p.Glu13del
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5715_378+5717delTCT
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.37_39delGAA
  hgvsp: ENSP00000474212.1:p.Glu13del
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.37_39delGAA
  hgvsp: ENSP00000474930.1:p.Glu13del
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.37_39delGAA
  hgvsp: ENSP00000474426.1:p.Glu13del
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.37_39delGAA
  hgvsp: ENSP00000475068.1:p.Glu13del
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*42_*44delGAA
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.37_39delGAA
  hgvsp: ENSP00000474892.1:p.Glu13del
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28243
  bin: 7.5e0
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 2.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9691
  bin: 1.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 10731
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 2.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33072
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu13del
num of homozygotes: 2
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: GTTC
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

12-51640627-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640627
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640626
    reference: chr 12
allele count: 1
allele frequency: 3.021148036253776e-5
allele num: 33100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*40-13delC
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5728delG
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.35-13delC
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-8-13delC
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.35-13delC
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.35-13delC
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.35-13delC
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.35-13delC
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.35-13delC
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 21951
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20705
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3176
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21507
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: AG
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

12-51640629-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640629
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640629
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 30454
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.35-14T>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5729A>G
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.35-14T>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-8-14T>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.35-14T>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*40-14T>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.35-14T>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.35-14T>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.35-14T>C
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20598
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22926
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23697
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21031
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

12-51640630-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640630
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640630
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 30526
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.35-15T>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-8-15T>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*40-15T>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5730A>G
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.35-15T>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.35-15T>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.35-15T>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.35-15T>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.35-15T>C
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20610
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22962
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23766
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

12-51640641-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640641
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640641
    reference: chr 12
allele count: 1
allele frequency: 3.884702043353275e-5
allele num: 25742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.35-26C>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*40-26C>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.35-26C>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.35-26C>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.35-26C>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.35-26C>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-8-26C>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.35-26C>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5741G>T
  variant of: http://identifiers.org/hgnc/2684
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27444
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17565
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6855
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28192
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15551
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-51640642-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640642
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640642
    reference: chr 12
allele count: 1
allele frequency: 4.217273954116059e-5
allele num: 23712
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.35-27C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.35-27C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*40-27C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-8-27C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.35-27C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.35-27C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5742G>A
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.35-27C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.35-27C>T
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16960
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28430
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

12-51640650-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640650
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640650
    reference: chr 12
allele count: 4
allele frequency: 1.826984561980451e-4
allele num: 21894
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.35-35C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.35-35C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.35-35C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.35-35C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.35-35C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*40-35C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5750G>A
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-8-35C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.35-35C>T
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16529
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29421
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2923
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-51640657-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640657
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640655
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 19562
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.35-44_35-43delAA
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-8-44_-8-43delAA
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5760_378+5761delTT
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*40-44_*40-43delAA
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.35-44_35-43delAA
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.35-44_35-43delAA
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.35-44_35-43delAA
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.35-44_35-43delAA
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.35-44_35-43delAA
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16728
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29128
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: CTT
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

12-51640661-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51640661
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51640661
    reference: chr 12
allele count: 1
allele frequency: 5.327650506126798e-5
allele num: 18770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+5761T>C
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*40-46A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-8-46A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.35-46A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.35-46A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.35-46A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.35-46A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.35-46A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.35-46A>G
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29006
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16878
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4093
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/12-51645270-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51645270
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51645270
    reference: chr 12
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-9+2088T>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.35-4655T>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.35-4655T>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+10370A>C
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.35-4655T>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.35-4655T>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.*18T>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.35-4655T>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.35-4655T>G
  variant of: http://identifiers.org/hgnc/26918
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  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: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/12-51645309-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51645309
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51645309
    reference: chr 12
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.35-4694T>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.35-4694T>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.35-4694T>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+10409A>C
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-9+2049T>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.93T>G
  hgvsp: ENST00000380103.4:c.93T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.35-4694T>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.35-4694T>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.35-4694T>G
  variant of: http://identifiers.org/hgnc/26918
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro31Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

12-51645376-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51645376
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51645377
    reference: chr 12
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.35-4762dupT
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.35-4762dupT
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-9+1981dupT
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+10491dupA
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.35-4762dupT
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.35-4762dupT
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.35-10dupT
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.35-4762dupT
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.35-4762dupT
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  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: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  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: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS

12-51645376-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51645376
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51645375
    reference: chr 12
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.35-4762delT
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-9+1981delT
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.35-4762delT
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.35-4762delT
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.35-4762delT
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.35-10delT
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.35-4762delT
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.35-4762delT
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.378+10491delA
  variant of: http://identifiers.org/hgnc/2684
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
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 quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: GA
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

12-51662979-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51662979
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51662979
    reference: chr 12
allele count: 1
allele frequency: 8.290774026663129e-6
allele num: 120616
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-29+50C>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1523G>C
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.34+50C>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.34+50C>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.34+50C>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.34+50C>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.34+50C>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.34+50C>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.34+50C>G
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

12-51662980-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51662980
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51662980
    reference: chr 12
allele count: 15
allele frequency: 1.243904866155837e-4
allele num: 120588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1522G>A
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.34+49C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.34+49C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.34+49C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.34+49C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.34+49C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.34+49C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.34+49C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-29+49C>T
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3791
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4039
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8863
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9162
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5365
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10322
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7281
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4338
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

12-51662984-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51662984
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51662984
    reference: chr 12
allele count: 6
allele frequency: 4.973969559306297e-5
allele num: 120628
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.34+45A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.34+45A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.34+45A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1518T>C
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.34+45A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.34+45A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.34+45A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-29+45A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.34+45A>G
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5367
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7283
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10384
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9167
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3979
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2425
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

12-51662985-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51662985
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51662985
    reference: chr 12
allele count: 3
allele frequency: 2.486984779653149e-5
allele num: 120628
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-29+44A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.34+44A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.34+44A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.34+44A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1517T>C
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.34+44A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.34+44A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.34+44A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.34+44A>G
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8910
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10395
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7282
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3980
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/12-51662994-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51662994
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51662994
    reference: chr 12
allele count: 1
allele frequency: 8.288300235387727e-6
allele num: 120652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-29+35G>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.34+35G>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.34+35G>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.34+35G>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.34+35G>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1508C>A
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.34+35G>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.34+35G>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.34+35G>T
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9192
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10498
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4341
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

12-51662997-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51662997
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51662997
    reference: chr 12
allele count: 1
allele frequency: 8.288025460814215e-6
allele num: 120656
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1505T>C
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.34+32A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.34+32A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-29+32A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.34+32A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.34+32A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.34+32A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.34+32A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.34+32A>G
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9191
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5287
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum

12-51663001-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51663001
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51663001
    reference: chr 12
allele count: 6
allele frequency: 4.97223833595757e-5
allele num: 120670
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.34+28T>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.34+28T>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.34+28T>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1501A>G
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.34+28T>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.34+28T>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.34+28T>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-29+28T>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.34+28T>C
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9150
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4342
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

12-51663003-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51663003
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51663003
    reference: chr 12
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.34+26A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.34+26A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1499T>C
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.34+26A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.34+26A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.34+26A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.34+26A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-29+26A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.34+26A>G
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10554
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4342
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5306
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

12-51663005-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51663005
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51663005
    reference: chr 12
allele count: 1
allele frequency: 8.287063893262618e-6
allele num: 120670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.34+24C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-29+24C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.34+24C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.34+24C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1497G>A
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.34+24C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.34+24C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.34+24C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.34+24C>T
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10573
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8682
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

12-51663006-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51663006
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51663006
    reference: chr 12
allele count: 3
allele frequency: 2.486036760196894e-5
allele num: 120674
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.34+23C>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.34+23C>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.34+23C>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-29+23C>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.34+23C>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1496G>T
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.34+23C>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.34+23C>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.34+23C>A
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9208
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9200
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3989
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8683
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ

12-51663012-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51663012
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51663012
    reference: chr 12
allele count: 150
allele frequency: 1.242915382320772e-3
allele num: 120684
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.34+17C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-29+17C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.34+17C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1490G>A
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.34+17C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.34+17C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.34+17C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.34+17C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.34+17C>T
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9188
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 9.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10587
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7278
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5364
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9236
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 27799
  bin: 9.75e1
  variant carriers: 150
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3978
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4335
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum

12-51663016-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51663016
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51663016
    reference: chr 12
allele count: 1
allele frequency: 8.285553309249991e-6
allele num: 120692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.34+13C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.34+13C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.34+13C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1486G>A
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.34+13C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.34+13C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.34+13C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-29+13C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.34+13C>T
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9197
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

12-51663021-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51663021
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51663021
    reference: chr 12
allele count: 1
allele frequency: 8.285004142502071e-6
allele num: 120700
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.34+8A>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1481T>G
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.34+8A>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.34+8A>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.34+8A>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-29+8A>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.34+8A>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.34+8A>C
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.34+8A>C
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3985
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27746
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
hgvs: c.34+8A>C
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

12-51663025-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51663025
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51663024
    reference: chr 12
allele count: 1
allele frequency: 8.284317786430287e-6
allele num: 120710
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-29+3delA
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.34+3delA
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.34+3delA
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.34+3delA
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.34+3delA
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.34+3delA
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.34+3delA
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1476delT
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.34+3delA
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9198
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2987
  bin: 7.25e1
  variant carriers: 0
hgvs: c.34+3delA
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: CT
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-51663028-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51663028
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51663028
    reference: chr 12
allele count: 1
allele frequency: 8.284317786430287e-6
allele num: 120710
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.34+1G>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.34+1G>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.34+1G>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.34+1G>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.34+1G>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.34+1G>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-29+1G>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1474C>A
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.34+1G>T
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2438
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2989
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8836
  bin: 6.25e1
  variant carriers: 0
hgvs: c.34+1G>T
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-51663031-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51663031
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51663031
    reference: chr 12
allele count: 3
allele frequency: 2.485254158658626e-5
allele num: 120712
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-31G>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1471C>A
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.32G>T
  hgvsp: ENSP00000369446.4:p.Arg11Ile
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.32G>T
  hgvsp: ENSP00000474930.1:p.Arg11Ile
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.32G>T
  hgvsp: ENSP00000475068.1:p.Arg11Ile
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.32G>T
  hgvsp: ENSP00000474892.1:p.Arg11Ile
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.32G>T
  hgvsp: ENSP00000474426.1:p.Arg11Ile
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.32G>T
  hgvsp: ENSP00000381471.2:p.Arg11Ile
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.32G>T
  hgvsp: ENSP00000474212.1:p.Arg11Ile
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg11Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-51663031-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51663031
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51663031
    reference: chr 12
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.32G>C
  hgvsp: ENSP00000369446.4:p.Arg11Thr
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.32G>C
  hgvsp: ENSP00000381471.2:p.Arg11Thr
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.32G>C
  hgvsp: ENSP00000474212.1:p.Arg11Thr
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.32G>C
  hgvsp: ENSP00000474426.1:p.Arg11Thr
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.32G>C
  hgvsp: ENSP00000475068.1:p.Arg11Thr
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1471C>G
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.32G>C
  hgvsp: ENSP00000474930.1:p.Arg11Thr
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.32G>C
  hgvsp: ENSP00000474892.1:p.Arg11Thr
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-31G>C
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg11Thr
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

12-51663031-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51663031
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51663031
    reference: chr 12
allele count: 2
allele frequency: 1.656836105772417e-5
allele num: 120712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.32G>A
  hgvsp: ENSP00000474892.1:p.Arg11Lys
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-31G>A
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.32G>A
  hgvsp: ENSP00000475068.1:p.Arg11Lys
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1471C>T
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.32G>A
  hgvsp: ENSP00000474930.1:p.Arg11Lys
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.32G>A
  hgvsp: ENSP00000474212.1:p.Arg11Lys
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.32G>A
  hgvsp: ENSP00000369446.4:p.Arg11Lys
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.32G>A
  hgvsp: ENSP00000474426.1:p.Arg11Lys
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.32G>A
  hgvsp: ENSP00000381471.2:p.Arg11Lys
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg11Lys
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

12-51663033-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51663033
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51663033
    reference: chr 12
allele count: 1
allele frequency: 8.284317786430287e-6
allele num: 120710
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.30A>G
  hgvsp: ENST00000380103.4:c.30A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.30A>G
  hgvsp: ENST00000605426.1:c.30A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.30A>G
  hgvsp: ENST00000603864.1:c.30A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.30A>G
  hgvsp: ENST00000603798.1:c.30A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1469T>C
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-33A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.30A>G
  hgvsp: ENST00000603838.1:c.30A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.30A>G
  hgvsp: ENST00000604188.1:c.30A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.30A>G
  hgvsp: ENST00000398453.3:c.30A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5373
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4346
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4585
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro10Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

12-51663035-GAGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51663035
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51663032
    reference: chr 12
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1464_379-1462delAAG
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.25_27delTCT
  hgvsp: ENSP00000474426.1:p.Ser9del
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.25_27delTCT
  hgvsp: ENSP00000474892.1:p.Ser9del
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.25_27delTCT
  hgvsp: ENSP00000474212.1:p.Ser9del
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.25_27delTCT
  hgvsp: ENSP00000381471.2:p.Ser9del
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-38_-36delTCT
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.25_27delTCT
  hgvsp: ENSP00000474930.1:p.Ser9del
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.25_27delTCT
  hgvsp: ENSP00000475068.1:p.Ser9del
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.25_27delTCT
  hgvsp: ENSP00000369446.4:p.Ser9del
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4583
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2436
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4346
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser9del
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: GAGA
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

12-51663037-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51663037
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51663037
    reference: chr 12
allele count: 1
allele frequency: 8.284043275842073e-6
allele num: 120714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.26C>T
  hgvsp: ENSP00000474212.1:p.Ser9Phe
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.26C>T
  hgvsp: ENSP00000474892.1:p.Ser9Phe
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.26C>T
  hgvsp: ENSP00000474426.1:p.Ser9Phe
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-37C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.26C>T
  hgvsp: ENSP00000381471.2:p.Ser9Phe
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.26C>T
  hgvsp: ENSP00000475068.1:p.Ser9Phe
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.26C>T
  hgvsp: ENSP00000369446.4:p.Ser9Phe
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1465G>A
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.26C>T
  hgvsp: ENSP00000474930.1:p.Ser9Phe
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9331
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4583
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3982
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser9Phe
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

12-51663040-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51663040
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51663040
    reference: chr 12
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.23C>T
  hgvsp: ENSP00000369446.4:p.Pro8Leu
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.23C>T
  hgvsp: ENSP00000474426.1:p.Pro8Leu
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.23C>T
  hgvsp: ENSP00000474892.1:p.Pro8Leu
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-40C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.23C>T
  hgvsp: ENSP00000474930.1:p.Pro8Leu
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1462G>A
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.23C>T
  hgvsp: ENSP00000475068.1:p.Pro8Leu
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.23C>T
  hgvsp: ENSP00000474212.1:p.Pro8Leu
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.23C>T
  hgvsp: ENSP00000381471.2:p.Pro8Leu
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2991
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro8Leu
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

12-51663041-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51663041
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51663041
    reference: chr 12
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1461G>A
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.22C>T
  hgvsp: ENSP00000474892.1:p.Pro8Ser
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-41C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.22C>T
  hgvsp: ENSP00000474426.1:p.Pro8Ser
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.22C>T
  hgvsp: ENSP00000475068.1:p.Pro8Ser
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.22C>T
  hgvsp: ENSP00000474930.1:p.Pro8Ser
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.22C>T
  hgvsp: ENSP00000369446.4:p.Pro8Ser
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.22C>T
  hgvsp: ENSP00000381471.2:p.Pro8Ser
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.22C>T
  hgvsp: ENSP00000474212.1:p.Pro8Ser
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5336
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2989
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro8Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

12-51663050-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51663050
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51663050
    reference: chr 12
allele count: 49
allele frequency: 4.059113953411313e-4
allele num: 120716
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.13C>G
  hgvsp: ENSP00000474892.1:p.Leu5Val
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.13C>G
  hgvsp: ENSP00000369446.4:p.Leu5Val
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.13C>G
  hgvsp: ENSP00000474212.1:p.Leu5Val
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.13C>G
  hgvsp: ENSP00000381471.2:p.Leu5Val
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.13C>G
  hgvsp: ENSP00000474426.1:p.Leu5Val
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.13C>G
  hgvsp: ENSP00000475068.1:p.Leu5Val
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1452G>C
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.13C>G
  hgvsp: ENSP00000474930.1:p.Leu5Val
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-50C>G
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7282
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9186
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3979
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5341
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu5Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum

12-51663051-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51663051
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51663051
    reference: chr 12
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.12C>T
  hgvsp: ENST00000603838.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1451G>A
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-51C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.12C>T
  hgvsp: ENST00000604188.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.12C>T
  hgvsp: ENST00000603798.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.12C>T
  hgvsp: ENST00000380103.4:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.12C>T
  hgvsp: ENST00000603864.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.12C>T
  hgvsp: ENST00000398453.3:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.12C>T
  hgvsp: ENST00000605426.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5343
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu4Leu
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

12-51663056-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51663056
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51663056
    reference: chr 12
allele count: 1
allele frequency: 8.284317786430287e-6
allele num: 120710
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.7A>G
  hgvsp: ENSP00000474892.1:p.Ser3Gly
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1446T>C
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.7A>G
  hgvsp: ENSP00000381471.2:p.Ser3Gly
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-56A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.7A>G
  hgvsp: ENSP00000369446.4:p.Ser3Gly
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.7A>G
  hgvsp: ENSP00000474930.1:p.Ser3Gly
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.7A>G
  hgvsp: ENSP00000475068.1:p.Ser3Gly
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.7A>G
  hgvsp: ENSP00000474212.1:p.Ser3Gly
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.7A>G
  hgvsp: ENSP00000474426.1:p.Ser3Gly
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3980
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser3Gly
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

12-51663069-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51663069
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51663069
    reference: chr 12
allele count: 1
allele frequency: 8.284317786430287e-6
allele num: 120710
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-69A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.-7A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.-7A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.-7A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1433T>C
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.-7A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.-7A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.-7A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.-7A>G
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3979
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2436
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4571
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5335
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2975
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-51663072-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51663072
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51663072
    reference: chr 12
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.-10A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-72A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.-10A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1430T>C
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.-10A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.-10A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.-10A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.-10A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.-10A>G
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8816
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27738
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4348
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

12-51663080-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51663080
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51663080
    reference: chr 12
allele count: 1
allele frequency: 8.284043275842073e-6
allele num: 120714
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000369446
  ensembl transcript: ENST00000380103
  gene symbol: SMAGP
  hgvsc: ENST00000380103.4:c.-18A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.-18A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-80A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.-18A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.-18A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.-18A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.-18A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.-18A>G
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1422T>C
  variant of: http://identifiers.org/hgnc/2684
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7293
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27739
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-51663106-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51663106
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51663106
    reference: chr 12
allele count: 4
allele frequency: 3.314880498558027e-5
allele num: 120668
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.-38-6C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1396G>A
  variant of: http://identifiers.org/hgnc/2684
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.-38-6C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-100-6C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.-44C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.-38-6C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.-38-6C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.-38-6C>T
  variant of: http://identifiers.org/hgnc/26918
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3791
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2422
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
hgvs: c.-38-6C>T
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

12-51663110-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51663110
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51663110
    reference: chr 12
allele count: 9
allele frequency: 7.459964855276682e-5
allele num: 120644
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475135
  ensembl transcript: ENST00000605627
  gene symbol: SMAGP
  hgvsc: ENST00000605627.1:c.-100-10C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474426
  ensembl transcript: ENST00000603838
  gene symbol: SMAGP
  hgvsc: ENST00000603838.1:c.-38-10C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000475068
  ensembl transcript: ENST00000603798
  gene symbol: SMAGP
  hgvsc: ENST00000603798.1:c.-38-10C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474892
  ensembl transcript: ENST00000603864
  gene symbol: SMAGP
  hgvsc: ENST00000603864.1:c.-48C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000381471
  ensembl transcript: ENST00000398453
  gene symbol: SMAGP
  hgvsc: ENST00000398453.3:c.-38-10C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474930
  ensembl transcript: ENST00000604188
  gene symbol: SMAGP
  hgvsc: ENST00000604188.1:c.-38-10C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170545
  ensembl protein: ENSP00000474212
  ensembl transcript: ENST00000605426
  gene symbol: SMAGP
  hgvsc: ENST00000605426.1:c.-38-10C>T
  variant of: http://identifiers.org/hgnc/26918
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183283
  ensembl protein: ENSP00000474597
  ensembl transcript: ENST00000604900
  gene symbol: DAZAP2
  hgvsc: ENST00000604900.1:c.379-1392G>A
  variant of: http://identifiers.org/hgnc/2684
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8716
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9121
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10095
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 1170
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1532
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2854
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6059
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3068
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18457
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1814
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2581
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1315
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3270
bin: 7.75e1
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: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.037129226301597e-4
allele num: 9642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.249e1

MQRankSum
type: SiteQuality
SIO_000300: -1.629e0

VQSLOD
type: SiteQuality
SIO_000300: -2.708e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 1.663665e6

GenotypeQuality
all individuals: 906
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3019
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7633
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 4952
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2165
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3504
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4681
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1522
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4781
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1746
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4020
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2379
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.69630557294928e-5
allele num: 63880
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.231527093596059e-3
allele num: 812
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.121313469139556e-4
allele num: 6578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11236
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

QD
type: SiteQuality
SIO_000300: 1.557e1

VQSLOD
type: SiteQuality
SIO_000300: -4.221e-1

FS
type: SiteQuality
SIO_000300: 9.366e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

DP
type: SiteQuality
SIO_000300: 1.634572e6

GenotypeQuality
all individuals: 99
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1197
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7052
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15392
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 999
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3185
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2368
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 16710
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2437
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 148
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 5
allele frequency: 1.19388729703916e-3
allele num: 4188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2962
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1258
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.460000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.17e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.159e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

DP
type: SiteQuality
SIO_000300: 6.92744e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

GenotypeQuality
all individuals: 152
bin: 7.75e1
variant carriers: 6

GenotypeQuality
all individuals: 253
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 4622
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 20994
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1292
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1170
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 7

GenotypeQuality
all individuals: 5666
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 2410
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 53
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 117
bin: 7.25e1
variant carriers: 5

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 7

GenotypeQuality
all individuals: 306
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 129
bin: 8.25e1
variant carriers: 6

GenotypeQuality
all individuals: 3261
bin: 9.75e1
variant carriers: 86

GenotypeQuality
all individuals: 1159
bin: 3.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13046
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 4.587155963302753e-3
allele num: 218
num of homozygotes: 0

South Asian
type: Population
allele count: 94
allele frequency: 2.149062642889803e-2
allele num: 4374
num of homozygotes: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1322
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.76e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 7.12214e5

FS
type: SiteQuality
SIO_000300: 2.065e0

QD
type: SiteQuality
SIO_000300: 1.333e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

GenotypeQuality
all individuals: 144
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1407
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5140
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2429
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15075
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4109
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3179
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 113
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2390
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1127
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1448
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 6.544502617801048e-4
allele num: 3056
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13126
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1296
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4332
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.332e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

QD
type: SiteQuality
SIO_000300: 5.38e0

DP
type: SiteQuality
SIO_000300: 7.19693e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 8.846e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.95e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1887
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3724
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3737
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2390
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25878
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3178
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13794
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3162
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1398
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.58e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e0

MQ
type: SiteQuality
SIO_000300: 5.443e1

VQSLOD
type: SiteQuality
SIO_000300: -1.152e0

DP
type: SiteQuality
SIO_000300: 7.44297e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

QD
type: SiteQuality
SIO_000300: 6.45e0

GenotypeQuality
all individuals: 11470
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2300
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 238
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 990
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2323
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2656
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3178
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1704
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.860592755214051e-5
allele num: 14576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3286
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1474
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

FS
type: SiteQuality
SIO_000300: 1.941e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.92e-1

QD
type: SiteQuality
SIO_000300: 9.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 7.72499e5

GenotypeQuality
all individuals: 365
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9522
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1982
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2209
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2196
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3178
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2120
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3649
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15690
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 3.720238095238095e-4
allele num: 5376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 946
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1540
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.979e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.818e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.03e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.36e-1

MQ
type: SiteQuality
SIO_000300: 5.833e1

FS
type: SiteQuality
SIO_000300: 1.1746e1

DP
type: SiteQuality
SIO_000300: 8.0301e5

QD
type: SiteQuality
SIO_000300: 4.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.6e-2

GenotypeQuality
all individuals: 233
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1625
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34824
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1983
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1172
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6206
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.472271914132379e-4
allele num: 2236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1176
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3758
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: 5.09e-1

DP
type: SiteQuality
SIO_000300: 8.51942e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.136e0

QD
type: SiteQuality
SIO_000300: 1.393e1

MQRankSum
type: SiteQuality
SIO_000300: -1.334e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.48e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.456e0

GenotypeQuality
all individuals: 3179
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6538
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1124
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34971
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1628
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1877
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 3.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1690
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.604106512672441e-4
allele num: 6234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3794
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2272
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18076
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

FS
type: SiteQuality
SIO_000300: 2.392e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

QD
type: SiteQuality
SIO_000300: 1.123e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.44e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.973e0

DP
type: SiteQuality
SIO_000300: 8.57077e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1624
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7763
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1730
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5066
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3179
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 324
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2598
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.407261469180974e-4
allele num: 7106
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4046
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20062
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 300
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.9562e5

QD
type: SiteQuality
SIO_000300: 9.050000000000001e0

FS
type: SiteQuality
SIO_000300: 2.194e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.19e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

GenotypeQuality
all individuals: 35611
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1216
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8252
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3179
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 86
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 149
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4082
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2660
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7234
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1892
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.537e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.00341e5

VQSLOD
type: SiteQuality
SIO_000300: -2.874e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.88e-1

QD
type: SiteQuality
SIO_000300: 5.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.88e-1

GenotypeQuality
all individuals: 1660
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4645
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1300
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 138
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 163
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 86
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 560
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 750
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8549
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 361
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35467
bin: 2.25e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1942
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20874
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1518
num of homozygotes: 0

South Asian
type: Population
allele count: 31
allele frequency: 4.186925985953539e-3
allele num: 7404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.26e0

QD
type: SiteQuality
SIO_000300: 1.198e1

DP
type: SiteQuality
SIO_000300: 9.08995e5

GenotypeQuality
all individuals: 563
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10627
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3179
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34881
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3553
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1260
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1288
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1848
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3092
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.253267237494367e-4
allele num: 4438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23396
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.615e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

MQ
type: SiteQuality
SIO_000300: 5.884e1

VQSLOD
type: SiteQuality
SIO_000300: -5.368000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.174e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.236e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.98e-1

DP
type: SiteQuality
SIO_000300: 9.53705e5

GenotypeQuality
all individuals: 199
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34881
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1288
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1260
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3553
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.274234911950761e-5
allele num: 23396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1848
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2192
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.368000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.236e0

MQ
type: SiteQuality
SIO_000300: 5.884e1

FS
type: SiteQuality
SIO_000300: 2.174e0

DP
type: SiteQuality
SIO_000300: 9.53705e5

BaseQRankSum
type: SiteQuality
SIO_000300: 8.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.615e1

GenotypeQuality
all individuals: 133
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34624
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3182
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 182
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 532
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3328
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1290
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1325
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11198
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.240284438564578e-4
allele num: 24188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1978
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8416
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2232
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.651e5

VQSLOD
type: SiteQuality
SIO_000300: -6.947e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

QD
type: SiteQuality
SIO_000300: 5.9e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34436
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3178
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 198
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12601
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3422
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.918495297805643e-5
allele num: 25520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2150
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8792
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.19e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.17e-1

QD
type: SiteQuality
SIO_000300: 1.233e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.36e-1

DP
type: SiteQuality
SIO_000300: 9.86466e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.419e0

MQ
type: SiteQuality
SIO_000300: 5.84e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.886e-1

GenotypeQuality
all individuals: 209
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 553
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2916
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34377
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 137
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3187
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 12668
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 7.732755954222085e-5
allele num: 25864
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2350
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 2.013808975834292e-3
allele num: 3476
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.380662609871535e-4
allele num: 8874
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.88964e5

FS
type: SiteQuality
SIO_000300: 1.353e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 9.83e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.28e-1

GenotypeQuality
all individuals: 52
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 963
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 174
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13064
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34387
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 232
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3178
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.843788437884379e-5
allele num: 26016
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4694
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8914
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.896e0

FS
type: SiteQuality
SIO_000300: 1.378e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.059e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

DP
type: SiteQuality
SIO_000300: 9.92558e5

QD
type: SiteQuality
SIO_000300: 3.29e0

GenotypeQuality
all individuals: 479
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2879
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3178
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 34244
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1178
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.746440881162895e-5
allele num: 26692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9052
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4766
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2386
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

DP
type: SiteQuality
SIO_000300: 9.97911e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.445e0

QD
type: SiteQuality
SIO_000300: 5.83e0

VQSLOD
type: SiteQuality
SIO_000300: -1.156e0

GenotypeQuality
all individuals: 1205
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3714
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1935
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10221
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34297
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.833473894042782e-5
allele num: 26086
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2260
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9070
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.833e0

FS
type: SiteQuality
SIO_000300: 2.685e0

MQRankSum
type: SiteQuality
SIO_000300: -6.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

QD
type: SiteQuality
SIO_000300: 2.591e1

DP
type: SiteQuality
SIO_000300: 9.77726e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.02e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.41e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.363e0

MQ
type: SiteQuality
SIO_000300: 5.884e1

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1179
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8683
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35746
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3177
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8886
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.201673271686482e-4
allele num: 4542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2140
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3272
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.415e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

DP
type: SiteQuality
SIO_000300: 9.30093e5

BaseQRankSum
type: SiteQuality
SIO_000300: 9.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.36e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.39e-1

GenotypeQuality
all individuals: 667
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3177
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 125
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35468
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1154
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6542
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8390
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.131477709889115e-4
allele num: 8838
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3218
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24444
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.484e1

MQ
type: SiteQuality
SIO_000300: 5.889e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.52e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.683e0

FS
type: SiteQuality
SIO_000300: 5.1e0

VQSLOD
type: SiteQuality
SIO_000300: -8.38e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

DP
type: SiteQuality
SIO_000300: 9.24596e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.36e-1

GenotypeQuality
all individuals: 379
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34910
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7395
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 126
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3178
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1974
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3062
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1998
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.312138728323699e-4
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4346
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.00029e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

QD
type: SiteQuality
SIO_000300: 1.695e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.564e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.79e-2

GenotypeQuality
all individuals: 799
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1133
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9037
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 373
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34163
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6831
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3181
bin: 9.75e1
variant carriers: 4

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.72488141440276e-4
allele num: 23190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1956
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4314
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.320053120849933e-4
allele num: 3012
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

FS
type: SiteQuality
SIO_000300: 1.199e0

VQSLOD
type: SiteQuality
SIO_000300: -9.29e-1

MQ
type: SiteQuality
SIO_000300: 5.75e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e-1

QD
type: SiteQuality
SIO_000300: 1.019e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

DP
type: SiteQuality
SIO_000300: 8.90602e5

GenotypeQuality
all individuals: 6831
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34163
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 593
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1133
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3181
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 143
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3012
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1956
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.246589716684155e-4
allele num: 1906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4314
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.199e0

DP
type: SiteQuality
SIO_000300: 8.90602e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-2

MQ
type: SiteQuality
SIO_000300: 5.75e1

QD
type: SiteQuality
SIO_000300: 1.019e1

VQSLOD
type: SiteQuality
SIO_000300: -9.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e-1

GenotypeQuality
all individuals: 300
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 689
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3333
bin: 9.75e1
variant carriers: 161

GenotypeQuality
all individuals: 99
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6087
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1601
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 442
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 11218
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 123
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 536
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 86
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1135
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1872
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.624296962879641e-4
allele num: 1778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2874
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

South Asian
type: Population
allele count: 139
allele frequency: 1.65358077563645e-2
allele num: 8406
num of homozygotes: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.354401805869075e-4
allele num: 22150
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.15e-2

QD
type: SiteQuality
SIO_000300: 1.765e1

DP
type: SiteQuality
SIO_000300: 8.65244e5

MQ
type: SiteQuality
SIO_000300: 5.701e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

FS
type: SiteQuality
SIO_000300: 5.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.04e-1

GenotypeQuality
all individuals: 2943
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 379
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24374
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1766
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1712
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.810575246949448e-5
allele num: 17210
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2162
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1496
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.104e1

QD
type: SiteQuality
SIO_000300: 1.349e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.96e-2

DP
type: SiteQuality
SIO_000300: 7.51218e5

ClippingRankSum
type: SiteQuality
SIO_000300: 9.320000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.46e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.47e-1

FS
type: SiteQuality
SIO_000300: 2.969e0

VQSLOD
type: SiteQuality
SIO_000300: 9.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.6e0

GenotypeQuality
all individuals: 1112
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 999
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2073
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 135
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3175
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15676
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6928
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1888
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 996
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1342
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.864e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.823e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.39e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.26194e5

GenotypeQuality
all individuals: 84
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2054
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2332
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 135
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3176
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21358
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 118
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1004
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1338
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1892
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6926
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.38e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.25678e5

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

QD
type: SiteQuality
SIO_000300: 1.503e1

GenotypeQuality
all individuals: 1750
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1133
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 945
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3102
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3176
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1694
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2972
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 7.072135785007072e-4
allele num: 1414
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1046
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12992
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.1e0

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 6.69826e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.33e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
all individuals: 48
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28797
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2461
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12661
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3688
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 434
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3178
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1234
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.643115346697338e-4
allele num: 6086
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11830
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.51798e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.307e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.65e-2

QD
type: SiteQuality
SIO_000300: 9.539999999999999e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4462
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2124
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 84
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10590
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3177
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 113
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1057
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5802
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 7.541478129713424e-4
allele num: 2652
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.255831173639393e-5
allele num: 10804
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.879699248120301e-3
allele num: 532
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

QD
type: SiteQuality
SIO_000300: 1.206e1

MQ
type: SiteQuality
SIO_000300: 5.929e1

FS
type: SiteQuality
SIO_000300: 1.311e0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

VQSLOD
type: SiteQuality
SIO_000300: -5.165e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.477e0

DP
type: SiteQuality
SIO_000300: 6.3038e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.96e-2

GenotypeQuality
all individuals: 27900
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5563
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4847
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7129
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3208
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3174
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5282
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.43e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 1.956e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.231e0

DP
type: SiteQuality
SIO_000300: 6.10628e5

GenotypeQuality
all individuals: 5668
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5975
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5934
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26554
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 984
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3173
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 114
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5084
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 4.15973377703827e-4
allele num: 2404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.569999999999999e-2

FS
type: SiteQuality
SIO_000300: 7.754e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

QD
type: SiteQuality
SIO_000300: 8.109999999999999e0

DP
type: SiteQuality
SIO_000300: 6.06708e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.663e0

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.601e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

GenotypeQuality
all individuals: 16
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 437
bin: 2.5e0
variant carriers: 0

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

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

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

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

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

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

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

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.506e3

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.138e-1

QD
type: SiteQuality
SIO_000300: 8.9e0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 32
bin: 2.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1812
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 130
bin: 2.5e0
variant carriers: 0

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.057e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 5.05e1

DP
type: SiteQuality
SIO_000300: 4.398e3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

QD
type: SiteQuality
SIO_000300: 9.27e0

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

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

GenotypeQuality
all individuals: 271
bin: 7.5e0
variant carriers: 1

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

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

GenotypeQuality
all individuals: 387
bin: 2.5e0
variant carriers: 1

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

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

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

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.974e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.152e1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 2.312e3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

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

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

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

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

GenotypeQuality
all individuals: 271
bin: 7.5e0
variant carriers: 2

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

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

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

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

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

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.152e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.974e-1

DP
type: SiteQuality
SIO_000300: 2.312e3

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 214
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6568
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 477
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3991
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27761
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2447
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4603
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2946
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5120
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.531e0

QD
type: SiteQuality
SIO_000300: 1.37e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

VQSLOD
type: SiteQuality
SIO_000300: 5.27e-1

DP
type: SiteQuality
SIO_000300: 2.625264e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

GenotypeQuality
all individuals: 79
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6878
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4593
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27752
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 2953
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3986
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2436
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 2.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.251305757339257e-4
allele num: 66628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.298e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-1

FS
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.465e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.33e-1

DP
type: SiteQuality
SIO_000300: 2.625624e6

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

GenotypeQuality
all individuals: 4332
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7678
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5177
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 314
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27750
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 4583
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2977
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.074410163339383e-4
allele num: 6612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.474e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

DP
type: SiteQuality
SIO_000300: 2.628406e6

QD
type: SiteQuality
SIO_000300: 1.45e1

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

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

GenotypeQuality
all individuals: 275
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4580
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5189
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2975
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4333
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2426
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7743
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27747
bin: 9.75e1
variant carriers: 3

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.042483660130719e-4
allele num: 9792
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.963e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.27e-1

DP
type: SiteQuality
SIO_000300: 2.629098e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 5.907e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

QD
type: SiteQuality
SIO_000300: 1.197e1

GenotypeQuality
all individuals: 2430
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5258
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3983
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2978
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8355
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4568
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 128
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27748
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 84
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-1

QD
type: SiteQuality
SIO_000300: 6.25e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.343e0

VQSLOD
type: SiteQuality
SIO_000300: -1.218e0

DP
type: SiteQuality
SIO_000300: 2.634179e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.09e-1

GenotypeQuality
all individuals: 3984
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2430
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4575
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8502
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2978
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27752
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4336
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 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: 9792
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.43e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

VQSLOD
type: SiteQuality
SIO_000300: 5.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.635099e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.99e-1

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2985
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27757
bin: 9.75e1
variant carriers: 6

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

GenotypeQuality
all individuals: 69
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2434
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8596
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5294
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4574
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3988
bin: 9.25e1
variant carriers: 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: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.037e1

VQSLOD
type: SiteQuality
SIO_000300: -2.254e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.047e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.5176e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.98e-1

DP
type: SiteQuality
SIO_000300: 2.636881e6

GenotypeQuality
all individuals: 8654
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 61
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27758
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4573
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2435
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2989
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3987
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e0

VQSLOD
type: SiteQuality
SIO_000300: -2.044e0

FS
type: SiteQuality
SIO_000300: 9.074999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 2.637522e6

QD
type: SiteQuality
SIO_000300: 1.87e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.464e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4341
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2435
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27756
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3991
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4577
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.309e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.087e0

QD
type: SiteQuality
SIO_000300: 6.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQ
type: SiteQuality
SIO_000300: 5.936e1

MQRankSum
type: SiteQuality
SIO_000300: 6.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.638115e6

VQSLOD
type: SiteQuality
SIO_000300: -1.662e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

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

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

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

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2996
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4339
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27757
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 49
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4574
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5315
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817520901490367e-4
allele num: 16506
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.228e0

DP
type: SiteQuality
SIO_000300: 2.638292e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.607e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

VQSLOD
type: SiteQuality
SIO_000300: -3.813e-1

FS
type: SiteQuality
SIO_000300: 2.757e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.49e-1

QD
type: SiteQuality
SIO_000300: 8.23e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 5331
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4574
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8737
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2432
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2988
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 7.5e0
variant carriers: 0

Latino
type: Population
allele count: 8
allele frequency: 6.918021445866483e-4
allele num: 11564
num of homozygotes: 0

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

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

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

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

African
type: Population
allele count: 140
allele frequency: 1.429738562091503e-2
allele num: 9792
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.775e0

FS
type: SiteQuality
SIO_000300: 5.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

DP
type: SiteQuality
SIO_000300: 2.642941e6

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.231e1

MQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

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

GenotypeQuality
all individuals: 27747
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2437
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4341
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8791
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4582
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5332
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2990
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3985
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

QD
type: SiteQuality
SIO_000300: 1.126e1

VQSLOD
type: SiteQuality
SIO_000300: 2.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

FS
type: SiteQuality
SIO_000300: 2.528e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

DP
type: SiteQuality
SIO_000300: 2.640175e6

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

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8809
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4341
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5336
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4581
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2986
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2440
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.533e0

DP
type: SiteQuality
SIO_000300: 2.640494e6

FS
type: SiteQuality
SIO_000300: 4.998e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.228e0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.35e0

MQ
type: SiteQuality
SIO_000300: 5.814e1

QD
type: SiteQuality
SIO_000300: 1.577e1

GenotypeQuality
all individuals: 4578
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5327
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4344
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8824
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3985
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27747
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2439
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.64097e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.614e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.53e-1

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5326
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27746
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3982
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4345
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4582
bin: 7.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.641042e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.373e0

QD
type: SiteQuality
SIO_000300: 1.535e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

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

GenotypeQuality
all individuals: 2990
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4343
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4585
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3983
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27745
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 8847
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2437
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5330
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.497616263380409e-5
allele num: 66702
num of homozygotes: 0

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

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

FS
type: SiteQuality
SIO_000300: 1.785e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.641493e6

VQSLOD
type: SiteQuality
SIO_000300: 3.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.98e-1

QD
type: SiteQuality
SIO_000300: 1.207e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.509e0

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

GenotypeQuality
all individuals: 4585
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4343
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5330
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2437
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3983
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27745
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8847
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2990
bin: 7.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.641493e6

VQSLOD
type: SiteQuality
SIO_000300: 3.68e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.785e0

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.509e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

QD
type: SiteQuality
SIO_000300: 1.207e1

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3983
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5330
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8847
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4585
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27745
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 4343
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2990
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 1.785e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.509e0

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

DP
type: SiteQuality
SIO_000300: 2.641493e6

VQSLOD
type: SiteQuality
SIO_000300: 3.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.207e1

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

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2987
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3982
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8864
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27745
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2437
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.641319e6

QD
type: SiteQuality
SIO_000300: 1.499e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.15e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

GenotypeQuality
all individuals: 2989
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3982
bin: 9.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 27744
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8872
bin: 6.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.834e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.6e-1

DP
type: SiteQuality
SIO_000300: 2.64149e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

QD
type: SiteQuality
SIO_000300: 1.313e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.92e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27744
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8873
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4348
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2991
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2436
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.021033285685113e-4
allele num: 9794
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.49e-1

DP
type: SiteQuality
SIO_000300: 2.641485e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.521e0

FS
type: SiteQuality
SIO_000300: 3.934e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.81e-1

QD
type: SiteQuality
SIO_000300: 1.337e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4347
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4580
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5332
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2437
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8845
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3982
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27743
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.145e0

DP
type: SiteQuality
SIO_000300: 2.641532e6

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

VQSLOD
type: SiteQuality
SIO_000300: 2.33e-1

MQ
type: SiteQuality
SIO_000300: 5.918e1

QD
type: SiteQuality
SIO_000300: 1.087e1

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3982
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2437
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4348
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4580
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27743
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 8854
bin: 6.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.32e-1

QD
type: SiteQuality
SIO_000300: 1.431e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.174e0

DP
type: SiteQuality
SIO_000300: 2.641547e6

MQRankSum
type: SiteQuality
SIO_000300: -5.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.11e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
all individuals: 2436
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8866
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2976
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27758
bin: 9.75e1
variant carriers: 49

GenotypeQuality
all individuals: 40
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4346
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4575
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 44
allele frequency: 6.596108296105298e-4
allele num: 66706
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.021033285685113e-4
allele num: 9794
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.593809441466367e-4
allele num: 11566
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.52e0

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.682e0

DP
type: SiteQuality
SIO_000300: 2.64391e6

QD
type: SiteQuality
SIO_000300: 1.127e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.13e-1

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

GenotypeQuality
all individuals: 4349
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3981
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 48
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4578
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27738
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2978
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8878
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2436
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.012e0

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

FS
type: SiteQuality
SIO_000300: 4.566e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.641877e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

QD
type: SiteQuality
SIO_000300: 1.479e1

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

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

GenotypeQuality
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8875
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4351
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27738
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2436
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4579
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2977
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5343
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.021033285685113e-4
allele num: 9794
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 6.044e0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.466e-1

QD
type: SiteQuality
SIO_000300: 1.372e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.289e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.619e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.99e-1

DP
type: SiteQuality
SIO_000300: 2.641918e6

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27738
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8839
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4348
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.14e-1

FS
type: SiteQuality
SIO_000300: 3.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

VQSLOD
type: SiteQuality
SIO_000300: 1.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.017e1

DP
type: SiteQuality
SIO_000300: 2.64156e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.016e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2972
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3979
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4571
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2436
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5333
bin: 6.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

DP
type: SiteQuality
SIO_000300: 2.641383e6

MQRankSum
type: SiteQuality
SIO_000300: -4.44e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

FS
type: SiteQuality
SIO_000300: 3.611e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.042e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

QD
type: SiteQuality
SIO_000300: 7.43e0

GenotypeQuality
all individuals: 4567
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3978
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5327
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8749
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 68
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2965
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2434
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4346
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.640757e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

QD
type: SiteQuality
SIO_000300: 1.444e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.655e0

MQRankSum
type: SiteQuality
SIO_000300: 6.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.137e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

GenotypeQuality
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2899
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6664
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3963
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4478
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27731
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 4305
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5072
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.998980173370527e-5
allele num: 66678
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

FS
type: SiteQuality
SIO_000300: 5.473e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.72e-1

QD
type: SiteQuality
SIO_000300: 1.604e1

VQSLOD
type: SiteQuality
SIO_000300: 4.64e-1

DP
type: SiteQuality
SIO_000300: 2.62932e6