5-148386686-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148386686
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148386686
    reference: chr 5
allele count: 1
allele frequency: 8.695500947809604e-6
allele num: 115002
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3479-46C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421092
  ensembl transcript: ENST00000502274
  gene symbol: SH3TC2
  hgvsc: ENST00000502274.1:c.19C>G
  hgvsp: ENSP00000421092.1:p.Gln7Glu
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.141-46C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2867-46C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2120-54C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2416-46C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2583-54C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3458-46C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3479-46C>G
  variant of: http://identifiers.org/hgnc/29427
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27900
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5974
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln7Glu
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

5-148386691-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148386691
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148386691
    reference: chr 5
allele count: 2
allele frequency: 1.778663156771371e-5
allele num: 112444
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3479-51T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2416-51T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2120-59T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2583-59T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3479-51T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421092
  ensembl transcript: ENST00000502274
  gene symbol: SH3TC2
  hgvsc: ENST00000502274.1:c.14T>C
  hgvsp: ENSP00000421092.1:p.Met5Thr
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3458-51T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.141-51T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2867-51T>C
  variant of: http://identifiers.org/hgnc/29427
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11031
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8093
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8480
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36213
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met5Thr
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

5-148386695-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148386695
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148386695
    reference: chr 5
allele count: 2
allele frequency: 1.823553010686021e-5
allele num: 109676
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2416-55C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.141-55C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2867-55C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3479-55C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421092
  ensembl transcript: ENST00000502274
  gene symbol: SH3TC2
  hgvsc: ENST00000502274.1:c.10C>G
  hgvsp: ENSP00000421092.1:p.Gln4Glu
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3479-55C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2583-63C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3458-55C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2120-63C>G
  variant of: http://identifiers.org/hgnc/29427
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7032
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11387
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln4Glu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

5-148386698-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148386698
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148386698
    reference: chr 5
allele count: 1
allele frequency: 9.351037965214139e-6
allele num: 106940
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2583-66G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421092
  ensembl transcript: ENST00000502274
  gene symbol: SH3TC2
  hgvsc: ENST00000502274.1:c.7G>A
  hgvsp: ENSP00000421092.1:p.Glu3Lys
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3479-58G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2867-58G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3458-58G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2416-58G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2120-66G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.141-58G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3479-58G>A
  variant of: http://identifiers.org/hgnc/29427
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9001
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22017
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu3Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ

5-148386708-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148386708
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148386708
    reference: chr 5
allele count: 1
allele frequency: 1.015764667641801e-5
allele num: 98448
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3479-68A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3479-68A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.141-68A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2867-68A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2416-68A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421092
  ensembl transcript: ENST00000502274
  gene symbol: SH3TC2
  hgvsc: ENST00000502274.1:c.-4A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2120-76A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3458-68A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2583-76A>G
  variant of: http://identifiers.org/hgnc/29427
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2402
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3586
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

5-148386713-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148386713
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148386713
    reference: chr 5
allele count: 2
allele frequency: 2.139311997261681e-5
allele num: 93488
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2416-73A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.141-73A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3458-73A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3479-73A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2583-81A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3479-73A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421092
  ensembl transcript: ENST00000502274
  gene symbol: SH3TC2
  hgvsc: ENST00000502274.1:c.-9A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2867-73A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2120-81A>G
  variant of: http://identifiers.org/hgnc/29427
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

5-148386719-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148386719
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148386719
    reference: chr 5
allele count: 1
allele frequency: 1.125568412048084e-5
allele num: 88844
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3479-79A>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421092
  ensembl transcript: ENST00000502274
  gene symbol: SH3TC2
  hgvsc: ENST00000502274.1:c.-15A>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3458-79A>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2867-79A>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2120-87A>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2583-87A>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.141-79A>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2416-79A>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3479-79A>C
  variant of: http://identifiers.org/hgnc/29427
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28637
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

5-148386732-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148386732
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148386732
    reference: chr 5
allele count: 1
allele frequency: 1.305278546441811e-5
allele num: 76612
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3458-92T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2120-100T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2583-100T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.141-92T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2867-92T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3479-92T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421092
  ensembl transcript: ENST00000502274
  gene symbol: SH3TC2
  hgvsc: ENST00000502274.1:c.-28T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3479-92T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2416-92T>C
  variant of: http://identifiers.org/hgnc/29427
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15961
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23348
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6422
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25994
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

5-148386733-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148386733
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148386733
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 76424
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3458-93G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3479-93G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3479-93G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.141-93G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2867-93G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421092
  ensembl transcript: ENST00000502274
  gene symbol: SH3TC2
  hgvsc: ENST00000502274.1:c.-29G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2120-101G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2583-101G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2416-93G>A
  variant of: http://identifiers.org/hgnc/29427
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5035
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5545
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16071
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4753
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

5-148386736-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148386736
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148386736
    reference: chr 5
allele count: 1
allele frequency: 1.359064963305246e-5
allele num: 73580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2583-104C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2120-104C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.141-96C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421092
  ensembl transcript: ENST00000502274
  gene symbol: SH3TC2
  hgvsc: ENST00000502274.1:c.-32C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3479-96C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2416-96C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2867-96C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3479-96C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3458-96C>T
  variant of: http://identifiers.org/hgnc/29427
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2548
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7384
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

5-148386743-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148386743
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148386743
    reference: chr 5
allele count: 1
allele frequency: 1.479071143321994e-5
allele num: 67610
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3479-103C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2583-111C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2867-103C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2120-111C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3458-103C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.141-103C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421092
  ensembl transcript: ENST00000502274
  gene symbol: SH3TC2
  hgvsc: ENST00000502274.1:c.-39C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3479-103C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2416-103C>G
  variant of: http://identifiers.org/hgnc/29427
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19757
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6677
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2551
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5448
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1782
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

5-148386744-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148386744
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148386744
    reference: chr 5
allele count: 1
allele frequency: 1.559965056782728e-5
allele num: 64104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3479-104C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3479-104C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2120-112C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2416-104C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421092
  ensembl transcript: ENST00000502274
  gene symbol: SH3TC2
  hgvsc: ENST00000502274.1:c.-40C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2583-112C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2867-104C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.141-104C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3458-104C>T
  variant of: http://identifiers.org/hgnc/29427
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6681
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18422
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20623
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6065
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4738
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2903
  bin: 3.75e1
  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: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-148386752-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148386752
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148386752
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 58750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.141-112G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2583-120G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3479-112G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421092
  ensembl transcript: ENST00000502274
  gene symbol: SH3TC2
  hgvsc: ENST00000502274.1:c.-48G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3479-112G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2120-120G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2416-112G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2867-112G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3458-112G>A
  variant of: http://identifiers.org/hgnc/29427
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6871
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5741
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22504
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14568
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5437
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8304
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5349
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

5-148388364-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388364
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388364
    reference: chr 5
allele count: 2
allele frequency: 1.647636465490254e-5
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2866+50A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2582+50A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.140+50A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3457+50A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3478+50A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3478+50A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2119+50A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2415+50A>G
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10032
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS

5-148388365-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388365
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388365
    reference: chr 5
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2119+49C>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2415+49C>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2866+49C>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3478+49C>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2582+49C>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3478+49C>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3457+49C>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.140+49C>A
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5247
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10031
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53487
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-148388373-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388373
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388372
    reference: chr 5
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2415+40delG
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2119+40delG
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3478+40delG
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2582+40delG
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.140+40delG
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3457+40delG
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3478+40delG
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2866+40delG
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10031
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: AC
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-148388375-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388375
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388375
    reference: chr 5
allele count: 368
allele frequency: 3.031651096502068e-3
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2866+39G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2582+39G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3457+39G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2415+39G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3478+39G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2119+39G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3478+39G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.140+39G>A
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4927
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 8.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 9.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10102
  bin: 9.75e1
  variant carriers: 256
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

5-148388377-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388377
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388377
    reference: chr 5
allele count: 115
allele frequency: 9.473285335354301e-4
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.140+37G>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2866+37G>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3478+37G>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2415+37G>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2119+37G>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3457+37G>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3478+37G>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2582+37G>C
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9936
  bin: 9.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

5-148388377-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388377
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388377
    reference: chr 5
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2866+37G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3478+37G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.140+37G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3457+37G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2415+37G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3478+37G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2119+37G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2582+37G>A
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9936
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

5-148388382-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388382
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388382
    reference: chr 5
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2582+32T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2866+32T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3478+32T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.140+32T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2415+32T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2119+32T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3478+32T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3457+32T>C
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4960
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9889
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/5-148388389-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388389
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388389
    reference: chr 5
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.140+25T>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3478+25T>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2415+25T>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2866+25T>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3457+25T>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2119+25T>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3478+25T>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2582+25T>G
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4960
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9888
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

5-148388397-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388397
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388397
    reference: chr 5
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3478+17A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2582+17A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2866+17A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2119+17A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3478+17A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.140+17A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3457+17A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2415+17A>G
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4960
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9888
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

5-148388399-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388399
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388399
    reference: chr 5
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2582+15C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2866+15C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2415+15C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.140+15C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2119+15C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3478+15C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3478+15C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3457+15C>G
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9888
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4960
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1868
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

5-148388407-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388407
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388407
    reference: chr 5
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2119+7G>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2415+7G>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3478+7G>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2866+7G>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3478+7G>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2582+7G>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.140+7G>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3457+7G>C
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9887
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 6.25e1
  variant carriers: 0
hgvs: c.3478+7G>C
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

5-148388409-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388409
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388409
    reference: chr 5
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3457+5G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3478+5G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2119+5G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3478+5G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2582+5G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2866+5G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.140+5G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2415+5G>A
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9887
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53446
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 8.25e1
  variant carriers: 0
hgvs: c.3478+5G>A
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

5-148388410-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388410
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388410
    reference: chr 5
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2866+4G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3457+4G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3478+4G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2119+4G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2415+4G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2582+4G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3478+4G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.140+4G>A
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9886
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: c.3478+4G>A
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

5-148388420-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388420
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388420
    reference: chr 5
allele count: 3287
allele frequency: 2.707444442614039e-2
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2576G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3451G>A
  hgvsp: ENSP00000421860.1:p.Val1151Ile
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2113G>A
  hgvsp: ENSP00000441427.1:p.Val705Ile
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2409G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3472G>A
  hgvsp: ENSP00000425627.1:p.Val1158Ile
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3472G>A
  hgvsp: ENSP00000423660.1:p.Val1158Ile
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.134G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2860G>A
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5414
  bin: 6.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 8.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 7.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 5.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 8.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 3.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 4542
  bin: 5.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 9.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 11290
  bin: 9.75e1
  variant carriers: 2821
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4789
  bin: 7.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 6.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val1158Ile
num of homozygotes: 71
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

5-148388421-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388421
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388421
    reference: chr 5
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2112A>G
  hgvsp: ENST00000538184.1:c.2112A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2408A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2575A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3450A>G
  hgvsp: ENST00000512049.1:c.3450A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3471A>G
  hgvsp: ENST00000504690.1:c.3471A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2859A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3471A>G
  hgvsp: ENST00000515425.1:c.3471A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.133A>G
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9213
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5833
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4756
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr1157Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/5-148388435-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388435
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388435
    reference: chr 5
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2845G>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.119G>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2394G>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3457G>T
  hgvsp: ENSP00000423660.1:p.Ala1153Ser
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2561G>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3436G>T
  hgvsp: ENSP00000421860.1:p.Ala1146Ser
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3457G>T
  hgvsp: ENSP00000425627.1:p.Ala1153Ser
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2098G>T
  hgvsp: ENSP00000441427.1:p.Ala700Ser
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4756
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9212
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala1153Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

5-148388436-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388436
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388436
    reference: chr 5
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3456C>T
  hgvsp: ENST00000515425.1:c.3456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2097C>T
  hgvsp: ENST00000538184.1:c.2097C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2393C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.118C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3456C>T
  hgvsp: ENST00000504690.1:c.3456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2560C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3435C>T
  hgvsp: ENST00000512049.1:c.3435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2844C>T
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9211
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4756
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala1152Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

5-148388443-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388443
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388443
    reference: chr 5
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2553C>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3428C>A
  hgvsp: ENSP00000421860.1:p.Thr1143Asn
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2837C>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3449C>A
  hgvsp: ENSP00000425627.1:p.Thr1150Asn
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2386C>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2090C>A
  hgvsp: ENSP00000441427.1:p.Thr697Asn
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3449C>A
  hgvsp: ENSP00000423660.1:p.Thr1150Asn
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.111C>A
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9211
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4757
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr1150Asn
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-148388459-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388459
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388459
    reference: chr 5
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2537G>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2821G>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2370G>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2074G>T
  hgvsp: ENSP00000441427.1:p.Ala692Ser
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3433G>T
  hgvsp: ENSP00000425627.1:p.Ala1145Ser
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3412G>T
  hgvsp: ENSP00000421860.1:p.Ala1138Ser
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.95G>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3433G>T
  hgvsp: ENSP00000423660.1:p.Ala1145Ser
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4757
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9215
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala1145Ser
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS

5-148388459-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388459
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388459
    reference: chr 5
allele count: 7
allele frequency: 5.765492702533522e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3412G>C
  hgvsp: ENSP00000421860.1:p.Ala1138Pro
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2370G>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2074G>C
  hgvsp: ENSP00000441427.1:p.Ala692Pro
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3433G>C
  hgvsp: ENSP00000425627.1:p.Ala1145Pro
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3433G>C
  hgvsp: ENSP00000423660.1:p.Ala1145Pro
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2537G>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.95G>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2821G>C
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4757
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9215
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala1145Pro
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

5-148388466-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388466
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388466
    reference: chr 5
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2530T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3426T>C
  hgvsp: ENST00000515425.1:c.3426T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2363T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.88T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3405T>C
  hgvsp: ENST00000512049.1:c.3405T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2814T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3426T>C
  hgvsp: ENST00000504690.1:c.3426T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2067T>C
  hgvsp: ENST00000538184.1:c.2067T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr1142Tyr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ

5-148388474-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388474
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388474
    reference: chr 5
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2522G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3418G>A
  hgvsp: ENSP00000425627.1:p.Glu1140Lys
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2806G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2059G>A
  hgvsp: ENSP00000441427.1:p.Glu687Lys
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2355G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3397G>A
  hgvsp: ENSP00000421860.1:p.Glu1133Lys
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3418G>A
  hgvsp: ENSP00000423660.1:p.Glu1140Lys
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.80G>A
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9208
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5418
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu1140Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

5-148388475-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388475
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388475
    reference: chr 5
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2354C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3417C>T
  hgvsp: ENST00000504690.1:c.3417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2058C>T
  hgvsp: ENST00000538184.1:c.2058C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3417C>T
  hgvsp: ENST00000515425.1:c.3417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3396C>T
  hgvsp: ENST00000512049.1:c.3396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2521C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.79C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2805C>T
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9208
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu1139Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

5-148388479-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388479
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388479
    reference: chr 5
allele count: 5
allele frequency: 4.11820907323823e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2517G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3413G>A
  hgvsp: ENSP00000423660.1:p.Ser1138Asn
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2054G>A
  hgvsp: ENSP00000441427.1:p.Ser685Asn
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3413G>A
  hgvsp: ENSP00000425627.1:p.Ser1138Asn
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2801G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3392G>A
  hgvsp: ENSP00000421860.1:p.Ser1131Asn
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2350G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.75G>A
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5418
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser1138Asn
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

5-148388490-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388490
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388490
    reference: chr 5
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3402G>A
  hgvsp: ENST00000515425.1:c.3402G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2790G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2043G>A
  hgvsp: ENST00000538184.1:c.2043G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3402G>A
  hgvsp: ENST00000504690.1:c.3402G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.64G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3381G>A
  hgvsp: ENST00000512049.1:c.3381G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2506G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2339G>A
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9205
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu1134Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-148388495-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388495
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388495
    reference: chr 5
allele count: 7
allele frequency: 5.765682656826568e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.59A>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3397A>T
  hgvsp: ENSP00000425627.1:p.Thr1133Ser
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2038A>T
  hgvsp: ENSP00000441427.1:p.Thr680Ser
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2334A>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3376A>T
  hgvsp: ENSP00000421860.1:p.Thr1126Ser
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2785A>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2501A>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3397A>T
  hgvsp: ENSP00000423660.1:p.Thr1133Ser
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9211
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53185
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr1133Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/5-148388502-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388502
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388502
    reference: chr 5
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2327T>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2778T>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2031T>G
  hgvsp: ENSP00000441427.1:p.Asn677Lys
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2494T>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3390T>G
  hgvsp: ENSP00000425627.1:p.Asn1130Lys
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3390T>G
  hgvsp: ENSP00000423660.1:p.Asn1130Lys
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.52T>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3369T>G
  hgvsp: ENSP00000421860.1:p.Asn1123Lys
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9204
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5417
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1972
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn1130Lys
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

5-148388508-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388508
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388508
    reference: chr 5
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3384T>A
  hgvsp: ENST00000504690.1:c.3384T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2772T>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3363T>A
  hgvsp: ENST00000512049.1:c.3363T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2025T>A
  hgvsp: ENST00000538184.1:c.2025T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2488T>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2321T>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.46T>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3384T>A
  hgvsp: ENST00000515425.1:c.3384T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9204
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53183
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile1128Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

5-148388512-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388512
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388512
    reference: chr 5
allele count: 109
allele frequency: 8.977843670208385e-4
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2768G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3380G>A
  hgvsp: ENSP00000423660.1:p.Arg1127Gln
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.42G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3359G>A
  hgvsp: ENSP00000421860.1:p.Arg1120Gln
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2317G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2021G>A
  hgvsp: ENSP00000441427.1:p.Arg674Gln
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3380G>A
  hgvsp: ENSP00000425627.1:p.Arg1127Gln
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2484G>A
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9236
  bin: 9.75e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg1127Gln
num of homozygotes: 1
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

5-148388529-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388529
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388529
    reference: chr 5
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2004G>A
  hgvsp: ENST00000538184.1:c.2004G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.25G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3363G>A
  hgvsp: ENST00000515425.1:c.3363G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3342G>A
  hgvsp: ENST00000512049.1:c.3342G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2467G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2300G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2751G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3363G>A
  hgvsp: ENST00000504690.1:c.3363G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5009
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9148
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala1121Ala
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD

5-148388530-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388530
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388530
    reference: chr 5
allele count: 144
allele frequency: 1.186102828525773e-3
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3362C>T
  hgvsp: ENSP00000423660.1:p.Ala1121Val
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.2003C>T
  hgvsp: ENSP00000441427.1:p.Ala668Val
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2466C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3341C>T
  hgvsp: ENSP00000421860.1:p.Ala1114Val
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3362C>T
  hgvsp: ENSP00000425627.1:p.Ala1121Val
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2750C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.24C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2299C>T
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9193
  bin: 9.75e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4772
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala1121Val
num of homozygotes: 2
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

5-148388550-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388550
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388550
    reference: chr 5
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3321T>C
  hgvsp: ENST00000512049.1:c.3321T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2446T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2279T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.1983T>C
  hgvsp: ENST00000538184.1:c.1983T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.4T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3342T>C
  hgvsp: ENST00000515425.1:c.3342T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3342T>C
  hgvsp: ENST00000504690.1:c.3342T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2730T>C
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9098
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53154
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro1114Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

5-148388552-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388552
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388552
    reference: chr 5
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2444C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3340C>G
  hgvsp: ENSP00000425627.1:p.Pro1114Ala
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3319C>G
  hgvsp: ENSP00000421860.1:p.Pro1107Ala
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.1981C>G
  hgvsp: ENSP00000441427.1:p.Pro661Ala
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3340C>G
  hgvsp: ENSP00000423660.1:p.Pro1114Ala
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000169247
  ensembl transcript: ENST00000515229
  gene symbol: SH3TC2
  hgvsc: ENST00000515229.1:n.2C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2728C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2277C>G
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9098
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro1114Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

5-148388557-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388557
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388557
    reference: chr 5
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2272C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2723C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2439C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.1976C>G
  hgvsp: ENSP00000441427.1:p.Ala659Gly
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3314C>G
  hgvsp: ENSP00000421860.1:p.Ala1105Gly
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3335C>G
  hgvsp: ENSP00000425627.1:p.Ala1112Gly
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3335C>G
  hgvsp: ENSP00000423660.1:p.Ala1112Gly
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9097
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53154
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala1112Gly
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/5-148388560-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388560
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388560
    reference: chr 5
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3332G>T
  hgvsp: ENSP00000423660.1:p.Gly1111Val
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3311G>T
  hgvsp: ENSP00000421860.1:p.Gly1104Val
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3332G>T
  hgvsp: ENSP00000425627.1:p.Gly1111Val
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2269G>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2436G>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.1973G>T
  hgvsp: ENSP00000441427.1:p.Gly658Val
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2720G>T
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5630
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9098
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53154
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly1111Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

5-148388560-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388560
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388560
    reference: chr 5
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3311G>A
  hgvsp: ENSP00000421860.1:p.Gly1104Glu
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3332G>A
  hgvsp: ENSP00000425627.1:p.Gly1111Glu
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.1973G>A
  hgvsp: ENSP00000441427.1:p.Gly658Glu
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3332G>A
  hgvsp: ENSP00000423660.1:p.Gly1111Glu
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2720G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2436G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2269G>A
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5630
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9098
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly1111Glu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

5-148388575-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388575
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388575
    reference: chr 5
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3328-11T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3328-11T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2432-11T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2716-11T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3307-11T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2265-11T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.1969-11T>C
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3711
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9095
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

5-148388587-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388587
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388587
    reference: chr 5
allele count: 6
allele frequency: 4.942583653228331e-5
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2716-23G>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.1969-23G>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3328-23G>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3328-23G>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3307-23G>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2265-23G>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2432-23G>C
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9094
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

5-148388588-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388588
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388588
    reference: chr 5
allele count: 2
allele frequency: 1.647690761397901e-5
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2432-24G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3307-24G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2716-24G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3328-24G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2265-24G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.1969-24G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3328-24G>A
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5850
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9092
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53153
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP

5-148388589-TTAGTCTAGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388589
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388580
    reference: chr 5
allele count: 8
allele frequency: 6.590545861961017e-5
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9091
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53154
  bin: 9.75e1
  variant carriers: 8
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: TTAGTCTAGC
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

5-148388593-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388593
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388593
    reference: chr 5
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2432-29A>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2265-29A>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2716-29A>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.1969-29A>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3328-29A>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3328-29A>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3307-29A>C
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9090
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53149
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD

5-148388595-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388595
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388594
    reference: chr 5
allele count: 2
allele frequency: 1.647907980818351e-5
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3328-32delT
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2432-32delT
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3307-32delT
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.1969-32delT
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3328-32delT
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2265-32delT
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2716-32delT
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9088
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: TA
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

5-148388597-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388597
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388597
    reference: chr 5
allele count: 2
allele frequency: 1.648016612007449e-5
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2432-33C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3307-33C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.1969-33C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3328-33C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3328-33C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2265-33C>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2716-33C>G
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9089
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53146
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

5-148388597-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388597
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388597
    reference: chr 5
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2716-33C>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2265-33C>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.1969-33C>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3328-33C>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2432-33C>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3307-33C>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3328-33C>A
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9089
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

5-148388600-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388600
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388600
    reference: chr 5
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3328-36T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3307-36T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3328-36T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.1969-36T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2265-36T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2716-36T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2432-36T>C
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5851
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9087
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53151
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-148388611-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148388611
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148388611
    reference: chr 5
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3328-47C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.1969-47C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2432-47C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2265-47C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3307-47C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2716-47C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3328-47C>T
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4789
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9087
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5851
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53148
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

5-148389787-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148389787
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148389787
    reference: chr 5
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2431+46C>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2715+46C>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2264+46C>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3327+46C>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.1968+46C>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3306+46C>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3327+46C>A
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

5-148389790-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148389790
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148389790
    reference: chr 5
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2264+43G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.1968+43G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2715+43G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3327+43G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3306+43G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2431+43G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3327+43G>A
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4860
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6210
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23642
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD

5-148389802-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148389802
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148389802
    reference: chr 5
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2715+31A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3327+31A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2264+31A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3327+31A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.1968+31A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3306+31A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2431+31A>G
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10745
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 656
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4360
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 55
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6233
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

5-148389818-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148389818
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148389818
    reference: chr 5
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3306+15T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2431+15T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3327+15T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2264+15T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.1968+15T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3327+15T>C
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2715+15T>C
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10764
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
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genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12015
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum

5-148389822-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148389822
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148389822
    reference: chr 5
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3306+11G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.1968+11G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3327+11G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2715+11G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3327+11G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2431+11G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2264+11G>A
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

5-148389835-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148389835
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148389835
    reference: chr 5
allele count: 6
allele frequency: 4.942827956634923e-5
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2713C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2429C>T
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3325C>T
  hgvsp: ENSP00000423660.1:p.Arg1109Ter
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.1966C>T
  hgvsp: ENSP00000441427.1:p.Arg656Ter
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3325C>T
  hgvsp: ENSP00000425627.1:p.Arg1109Ter
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3304C>T
  hgvsp: ENSP00000421860.1:p.Arg1102Ter
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2262C>T
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23629
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg1109Ter
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

5-148389837-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148389837
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148389837
    reference: chr 5
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3323A>G
  hgvsp: ENSP00000425627.1:p.Tyr1108Cys
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3323A>G
  hgvsp: ENSP00000423660.1:p.Tyr1108Cys
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2427A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3302A>G
  hgvsp: ENSP00000421860.1:p.Tyr1101Cys
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.1964A>G
  hgvsp: ENSP00000441427.1:p.Tyr655Cys
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2711A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2260A>G
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23623
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12088
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3765
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr1108Cys
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: T
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

5-148389840-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148389840
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148389840
    reference: chr 5
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3299A>G
  hgvsp: ENSP00000421860.1:p.Tyr1100Cys
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2708A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3320A>G
  hgvsp: ENSP00000423660.1:p.Tyr1107Cys
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3320A>G
  hgvsp: ENSP00000425627.1:p.Tyr1107Cys
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.1961A>G
  hgvsp: ENSP00000441427.1:p.Tyr654Cys
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2257A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2424A>G
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4380
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4860
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3266
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr1107Cys
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD

5-148389845-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148389845
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148389845
    reference: chr 5
allele count: 153
allele frequency: 1.260379596678529e-3
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2252G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2703G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3315G>A
  hgvsp: ENST00000504690.1:c.3315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2419G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3315G>A
  hgvsp: ENST00000515425.1:c.3315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.1956G>A
  hgvsp: ENST00000538184.1:c.1956G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3294G>A
  hgvsp: ENST00000512049.1:c.3294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 7.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 10196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6812
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 10793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 5469
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 9.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 8310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 4374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12101
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val1105Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

5-148389847-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148389847
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148389847
    reference: chr 5
allele count: 26
allele frequency: 2.141715679006244e-4
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2701G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2250G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3292G>A
  hgvsp: ENSP00000421860.1:p.Val1098Met
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3313G>A
  hgvsp: ENSP00000425627.1:p.Val1105Met
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3313G>A
  hgvsp: ENSP00000423660.1:p.Val1105Met
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2417G>A
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.1954G>A
  hgvsp: ENSP00000441427.1:p.Val652Met
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23553
  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6309
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4867
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val1105Met
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

5-148389848-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148389848
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148389848
    reference: chr 5
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.1953A>G
  hgvsp: ENST00000538184.1:c.1953A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3312A>G
  hgvsp: ENST00000504690.1:c.3312A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2700A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3312A>G
  hgvsp: ENST00000515425.1:c.3312A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2416A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2249A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3291A>G
  hgvsp: ENST00000512049.1:c.3291A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4395
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala1104Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

5-148389852-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 148389852
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 148389852
    reference: chr 5
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000425627
  ensembl transcript: ENST00000504690
  gene symbol: SH3TC2
  hgvsc: ENST00000504690.1:c.3308A>G
  hgvsp: ENSP00000425627.1:p.His1103Arg
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423940
  ensembl transcript: ENST00000510779
  gene symbol: SH3TC2
  hgvsc: ENST00000510779.1:c.*2245A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000313025
  ensembl transcript: ENST00000323829
  gene symbol: SH3TC2
  hgvsc: ENST00000323829.5:c.*2696A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421779
  ensembl transcript: ENST00000504517
  gene symbol: SH3TC2
  hgvsc: ENST00000504517.1:c.*2412A>G
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000421860
  ensembl transcript: ENST00000512049
  gene symbol: SH3TC2
  hgvsc: ENST00000512049.1:c.3287A>G
  hgvsp: ENSP00000421860.1:p.His1096Arg
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000441427
  ensembl transcript: ENST00000538184
  gene symbol: SH3TC2
  hgvsc: ENST00000538184.1:c.1949A>G
  hgvsp: ENSP00000441427.1:p.His650Arg
  variant of: http://identifiers.org/hgnc/29427
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169247
  ensembl protein: ENSP00000423660
  ensembl transcript: ENST00000515425
  gene symbol: SH3TC2
  hgvsc: ENST00000515425.1:c.3308A>G
  hgvsp: ENSP00000423660.1:p.His1103Arg
  variant of: http://identifiers.org/hgnc/29427
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4397
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3776
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His1103Arg
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 38742
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1813
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 268
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8218
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9600
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.391409945033875e-5
allele num: 15646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10918
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.393e0

QD
type: SiteQuality
SIO_000300: 4.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.494e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.43e-1

DP
type: SiteQuality
SIO_000300: 1.61255e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

GenotypeQuality
all individuals: 127
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6986
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1391
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1804
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1375
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.881821603312006e-4
allele num: 10628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7996
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6220
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62046
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

QD
type: SiteQuality
SIO_000300: 1.537e1

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

DP
type: SiteQuality
SIO_000300: 1.555651e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 1321
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1798
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33223
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6068
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7794
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9078
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.302837137100769e-5
allele num: 60554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15098
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

FS
type: SiteQuality
SIO_000300: 1.338e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.176e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.98e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

QD
type: SiteQuality
SIO_000300: 1.897e1

DP
type: SiteQuality
SIO_000300: 1.493767e6

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1348
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1102
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30831
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5473
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1795
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7618
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.707807888382076e-5
allele num: 14908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5916
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8846
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58952
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.134e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.26e-1

DP
type: SiteQuality
SIO_000300: 1.429445e6

VQSLOD
type: SiteQuality
SIO_000300: -6.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.65e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

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

GenotypeQuality
all individuals: 805
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2006
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21690
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22658
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1790
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 382
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1014
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8790
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54136
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.994963626189144e-5
allele num: 14296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5492
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.2e-2

QD
type: SiteQuality
SIO_000300: 1.101e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

FS
type: SiteQuality
SIO_000300: 2.237e0

DP
type: SiteQuality
SIO_000300: 1.213634e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.31e0

MQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 15935
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26401
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1790
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 691
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 383
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3189
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2789
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2781
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1035
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1634
bin: 7.5e0
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7474
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.447381302006853e-4
allele num: 8172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5264
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

QD
type: SiteQuality
SIO_000300: 7.55e0

VQSLOD
type: SiteQuality
SIO_000300: -9.582000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.099986e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.066e0

GenotypeQuality
all individuals: 1923
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10877
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 872
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variant carriers: 0

GenotypeQuality
all individuals: 3925
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1393
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5010
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7058
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.055667475229207e-5
allele num: 48646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.699e0

MQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

VQSLOD
type: SiteQuality
SIO_000300: -1.376e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

DP
type: SiteQuality
SIO_000300: 9.94509e5

QD
type: SiteQuality
SIO_000300: 1.929e1

GenotypeQuality
all individuals: 378
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2363
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1240
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variant carriers: 0

GenotypeQuality
all individuals: 444
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variant carriers: 0

GenotypeQuality
all individuals: 592
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4775
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1915
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4193
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5342
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12642
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.400729821865847e-5
allele num: 41654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5418
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6050
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.88e-1

QD
type: SiteQuality
SIO_000300: 1.245e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

MQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.45e-2

DP
type: SiteQuality
SIO_000300: 8.39459e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

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

African
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Latino
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ClippingRankSum
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FS
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InbreedingCoeff
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QD
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MQRankSum
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DP
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VQSLOD
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BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

Latino
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Other
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European (Finnish)
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European (Non-Finnish)
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East Asian
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South Asian
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ClippingRankSum
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DP
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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FS
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MQRankSum
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ReadPosRankSum
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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East Asian
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allele frequency: 0.0e0
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Latino
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European (Finnish)
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European (Non-Finnish)
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South Asian
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MQ
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ClippingRankSum
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FS
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BaseQRankSum
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MQRankSum
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DP
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ReadPosRankSum
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QD
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InbreedingCoeff
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 34580
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Latino
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African
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European (Finnish)
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Other
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East Asian
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South Asian
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FS
type: SiteQuality
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MQRankSum
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DP
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MQ
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VQSLOD
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ClippingRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Non-Finnish)
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num of homozygotes: 0

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

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

Latino
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African
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Other
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European (Non-Finnish)
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European (Finnish)
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South Asian
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ReadPosRankSum
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DP
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MQRankSum
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BaseQRankSum
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MQ
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VQSLOD
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FS
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InbreedingCoeff
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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Other
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South Asian
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European (Finnish)
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Latino
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QD
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MQ
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DP
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BaseQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 11578
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African
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European (Finnish)
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East Asian
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South Asian
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allele count: 9
allele frequency: 5.450581395348837e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 340
allele frequency: 5.095006893244621e-3
allele num: 66732
num of homozygotes: 1

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.24e-1

FS
type: SiteQuality
SIO_000300: 1.526e0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

QD
type: SiteQuality
SIO_000300: 1.216e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

DP
type: SiteQuality
SIO_000300: 4.332745e6

GenotypeQuality
all individuals: 941
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 115

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 616
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 110
allele frequency: 1.058506543494996e-2
allele num: 10392
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 4
allele frequency: 3.454828122300915e-4
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.045e0

FS
type: SiteQuality
SIO_000300: 7.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.45e-1

QD
type: SiteQuality
SIO_000300: 1.147e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

DP
type: SiteQuality
SIO_000300: 4.319959e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 941
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variant carriers: 0

GenotypeQuality
all individuals: 616
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variant carriers: 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: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 908
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.37e0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

QD
type: SiteQuality
SIO_000300: 1.147e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.45e-1

FS
type: SiteQuality
SIO_000300: 7.07e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.045e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 4.319959e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1799
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1273
bin: 9.25e1
variant carriers: 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: 908
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.589e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

FS
type: SiteQuality
SIO_000300: 6.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.183e1

DP
type: SiteQuality
SIO_000300: 4.316273e6

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

GenotypeQuality
all individuals: 506
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1274
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 950
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GenotypeQuality
all individuals: 53446
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
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: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.316694e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.266e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.99e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.28e-1

GenotypeQuality
all individuals: 507
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1858
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variant carriers: 0

GenotypeQuality
all individuals: 1275
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.86e-1

QD
type: SiteQuality
SIO_000300: 1.45e1

FS
type: SiteQuality
SIO_000300: 2.855e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.148e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.05e0

DP
type: SiteQuality
SIO_000300: 4.317028e6

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 53447
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 2.75e1
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: 10396
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.951e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.089e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.67e-1

DP
type: SiteQuality
SIO_000300: 4.317172e6

VQSLOD
type: SiteQuality
SIO_000300: -1.381e0

FS
type: SiteQuality
SIO_000300: 9.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.59e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.31736e6

VQSLOD
type: SiteQuality
SIO_000300: -9.17e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.819e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-2

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 8.48e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.238e0

MQ
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
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: 11578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.125e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.576e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.387e0

DP
type: SiteQuality
SIO_000300: 4.317378e6

MQRankSum
type: SiteQuality
SIO_000300: -5.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.03e-1

QD
type: SiteQuality
SIO_000300: 1.087e1

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

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

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

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 502
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 3.25e1
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GenotypeQuality
all individuals: 53558
bin: 9.75e1
variant carriers: 3216

GenotypeQuality
all individuals: 1257
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 794
allele frequency: 4.808624031007752e-2
allele num: 16512
num of homozygotes: 28

African
type: Population
allele count: 65
allele frequency: 6.247597078046905e-3
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 141
allele frequency: 1.218037318590187e-2
allele num: 11576
num of homozygotes: 2

Other
type: Population
allele count: 24
allele frequency: 2.643171806167401e-2
allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2100
allele frequency: 3.146633102580239e-2
allele num: 66738
num of homozygotes: 35

European (Finnish)
type: Population
allele count: 163
allele frequency: 2.464469307529483e-2
allele num: 6614
num of homozygotes: 6

DP
type: SiteQuality
SIO_000300: 4.503187e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.71e0

FS
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.821e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.84e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.02e-1

QD
type: SiteQuality
SIO_000300: 1.238e1

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

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1010
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1067
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variant carriers: 0

GenotypeQuality
all individuals: 53187
bin: 9.75e1
variant carriers: 1

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: 8654
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: 11578
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.987e1

FS
type: SiteQuality
SIO_000300: 3.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.807e0

VQSLOD
type: SiteQuality
SIO_000300: -1.578e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.87e0

QD
type: SiteQuality
SIO_000300: 1.407e1

DP
type: SiteQuality
SIO_000300: 4.270934e6

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

GenotypeQuality
all individuals: 1945
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 53189
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 1321
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GenotypeQuality
all individuals: 977
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GenotypeQuality
all individuals: 1065
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variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495055439017081e-5
allele num: 66740
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: 10406
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.84e-1

DP
type: SiteQuality
SIO_000300: 4.271352e6

QD
type: SiteQuality
SIO_000300: 1.255e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.05e-1

FS
type: SiteQuality
SIO_000300: 5.931e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

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

GenotypeQuality
all individuals: 978
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 648
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 53189
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 1321
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1065
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1015
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.242e1

VQSLOD
type: SiteQuality
SIO_000300: 2.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-2

DP
type: SiteQuality
SIO_000300: 4.271225e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e0

FS
type: SiteQuality
SIO_000300: 5.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.47e-1

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

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

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

GenotypeQuality
all individuals: 1956
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variant carriers: 0

GenotypeQuality
all individuals: 1013
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

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

GenotypeQuality
all individuals: 526
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1322
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 979
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
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

MQ
type: SiteQuality
SIO_000300: 5.919e1

FS
type: SiteQuality
SIO_000300: 3.529e0

VQSLOD
type: SiteQuality
SIO_000300: -6.662e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.435e0

QD
type: SiteQuality
SIO_000300: 1.135e1

MQRankSum
type: SiteQuality
SIO_000300: -1.253e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.562e0

DP
type: SiteQuality
SIO_000300: 4.271246e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1322
bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 53188
bin: 9.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.58e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

QD
type: SiteQuality
SIO_000300: 1.442e1

DP
type: SiteQuality
SIO_000300: 4.271663e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 53188
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1958
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 7
allele frequency: 6.726888333653661e-4
allele num: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.271663e6

QD
type: SiteQuality
SIO_000300: 1.442e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.2e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53188
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1958
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
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variant carriers: 0

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

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

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

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: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.441e1

MQRankSum
type: SiteQuality
SIO_000300: -6.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.89e-1

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.703e0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.271201e6

FS
type: SiteQuality
SIO_000300: 1.027e0

VQSLOD
type: SiteQuality
SIO_000300: 7.15e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

QD
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BaseQRankSum
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FS
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SIO_000300: 1.025e0

DP
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ReadPosRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

MQ
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MQRankSum
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ClippingRankSum
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VQSLOD
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FS
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QD
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InbreedingCoeff
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BaseQRankSum
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DP
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ReadPosRankSum
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SIO_000300: 4.23e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 7.491759065028469e-5
allele num: 66740
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

DP
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VQSLOD
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QD
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
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VQSLOD
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DP
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BaseQRankSum
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FS
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MQRankSum
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MQ
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QD
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InbreedingCoeff
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ReadPosRankSum
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SIO_000300: -2.01e-1

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

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

Latino
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allele frequency: 6.046993780234969e-4
allele num: 11576
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

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

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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FS
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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DP
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MQ
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VQSLOD
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InbreedingCoeff
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QD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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Other
type: Population
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66740
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South Asian
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ClippingRankSum
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FS
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQRankSum
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MQ
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BaseQRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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South Asian
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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allele frequency: 1.543348616979832e-3
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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FS
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MQ
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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Latino
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European (Non-Finnish)
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South Asian
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European (Finnish)
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

DP
type: SiteQuality
SIO_000300: 4.266367e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.307e0

VQSLOD
type: SiteQuality
SIO_000300: -7.206e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.55e-1

FS
type: SiteQuality
SIO_000300: 9.308e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.206e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 142

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

European (Finnish)
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: 908
num of homozygotes: 0

African
type: Population
allele count: 131
allele frequency: 1.259131103421761e-2
allele num: 10404
num of homozygotes: 2

Latino
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allele count: 5
allele frequency: 4.318535152876144e-4
allele num: 11578
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.990380293086398e-5
allele num: 66738
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

DP
type: SiteQuality
SIO_000300: 4.27469e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.61e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.241e0

VQSLOD
type: SiteQuality
SIO_000300: 5.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.92e-1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.645e0

FS
type: SiteQuality
SIO_000300: 3.69e0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

DP
type: SiteQuality
SIO_000300: 4.262671e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

QD
type: SiteQuality
SIO_000300: 1.339e1

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1985
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 908
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: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

VQSLOD
type: SiteQuality
SIO_000300: 3.06e-1

QD
type: SiteQuality
SIO_000300: 1.448e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 4.26259e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.8e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 970
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variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 4.262502e6

MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

VQSLOD
type: SiteQuality
SIO_000300: -8.162e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.35e-1

FS
type: SiteQuality
SIO_000300: 9.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.127e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.027e0

QD
type: SiteQuality
SIO_000300: 1.18e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.656e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
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SIO_000300: 1.298e1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

European (Finnish)
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: 908
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996973057212216e-5
allele num: 66734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

South Asian
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Latino
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allele frequency: 0.0e0
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Other
type: Population
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African
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
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allele num: 8652
num of homozygotes: 0

South Asian
type: Population
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Other
type: Population
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African
type: Population
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allele frequency: 3.844675124951942e-4
allele num: 10404
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Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-1

DP
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
num of homozygotes: 0

South Asian
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African
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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MQRankSum
type: SiteQuality
SIO_000300: -2.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.19e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.14e0

QD
type: SiteQuality
SIO_000300: 1.382e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.45e-2

MQ
type: SiteQuality
SIO_000300: 5.908e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

DP
type: SiteQuality
SIO_000300: 4.260268e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 510
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variant carriers: 0

GenotypeQuality
all individuals: 977
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.198968886757389e-4
allele num: 66724
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 8.149999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

MQ
type: SiteQuality
SIO_000300: 5.112e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

QD
type: SiteQuality
SIO_000300: 5.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.09e-1

FS
type: SiteQuality
SIO_000300: 5.472e0

MQRankSum
type: SiteQuality
SIO_000300: -7.236e0

DP
type: SiteQuality
SIO_000300: 4.260107e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 41
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GenotypeQuality
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variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-2

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.51e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.63e0

VQSLOD
type: SiteQuality
SIO_000300: 7.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.51e-1

DP
type: SiteQuality
SIO_000300: 4.25947e6

FS
type: SiteQuality
SIO_000300: 3.039e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.468e1

GenotypeQuality
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variant carriers: 2

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 8650
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.998320940273447e-5
allele num: 66704
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: 908
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.48e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

FS
type: SiteQuality
SIO_000300: 3.223e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

DP
type: SiteQuality
SIO_000300: 4.258721e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.998141152485459e-5
allele num: 66708
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.841e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.47e-1

DP
type: SiteQuality
SIO_000300: 4.258468e6

FS
type: SiteQuality
SIO_000300: 2.014e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 8.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 1.456e1

GenotypeQuality
all individuals: 639
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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)
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allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.841e0

FS
type: SiteQuality
SIO_000300: 2.014e0

DP
type: SiteQuality
SIO_000300: 4.258468e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.456e1

VQSLOD
type: SiteQuality
SIO_000300: 8.39e-1

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

East Asian
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allele count: 0
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allele num: 8648
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InbreedingCoeff
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DP
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MQ
type: SiteQuality
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BaseQRankSum
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MQRankSum
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FS
type: SiteQuality
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VQSLOD
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QD
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

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

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

Other
type: Population
allele count: 1
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allele num: 908
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 1.179e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 9.624639076034648e-5
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Other
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.607263e6

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.29e-1

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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Other
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

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

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

Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.056201550387597e-5
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African
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ClippingRankSum
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FS
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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QD
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BaseQRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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Latino
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East Asian
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European (Non-Finnish)
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num of homozygotes: 0

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

African
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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ClippingRankSum
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DP
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FS
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QD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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East Asian
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Other
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VQSLOD
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DP
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ReadPosRankSum
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FS
type: SiteQuality
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QD
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ClippingRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.997242536866083e-5
allele num: 66728
num of homozygotes: 0

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

Latino
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South Asian
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allele num: 16508
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East Asian
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QD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

MQ
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VQSLOD
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

Other
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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DP
type: SiteQuality
SIO_000300: 2.612603e6

BaseQRankSum
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QD
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Latino
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Other
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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DP
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FS
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VQSLOD
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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European (Non-Finnish)
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allele num: 66726
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European (Finnish)
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allele frequency: 1.511944360447536e-3
allele num: 6614
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Other
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African
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Latino
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InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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MQ
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QD
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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South Asian
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Other
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MQRankSum
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QD
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BaseQRankSum
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FS
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ClippingRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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DP
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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East Asian
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ClippingRankSum
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FS
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InbreedingCoeff
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MQ
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QD
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VQSLOD
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DP
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MQRankSum
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ReadPosRankSum
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