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CHROM
POS
REF
ALT
Gene
HGVS.c
HGVS.p
dbSNP142 ID
chr19
11107133
T
C
intron_variant
MODIFIER
SMARCA4
c.1762-37T>C
chr19
11106790
T
C
intron_variant
MODIFIER
SMARCA4
c.1594-99T>C
chr19
11106600
C
T
intron_variant
MODIFIER
SMARCA4
c.1594-289C>T
chr19
11105608
T
C
synonymous_variant
LOW
SMARCA4
c.1524T>C
chr19
8669931
G
C
missense_variant
MODERATE
ADAMTS10
c.401C>G
chr19
8669873
T
C
intron_variant
MODIFIER
ADAMTS10
c.435+24A>G
chr19
8662350
C
T
intron_variant
MODIFIER
ADAMTS10
c.811-149G>A
chr19
8662347
TTGC
T
intron_variant
MODIFIER
ADAMTS10
c.811-149_811-147delGCA
chr19
8657823
G
A
intron_variant
MODIFIER
ADAMTS10
c.1480-69C>T
chr19
8657166
C
A
intron_variant
MODIFIER
ADAMTS10
c.1588-179G>T
chr19
8657092
C
CGGGATGGGGCTGGAAG
intron_variant
MODIFIER
ADAMTS10
c.1588-106_1588-105insCTTCCAGCCCCATCCC
chr19
8654916
G
A
intron_variant
MODIFIER
ADAMTS10
c.1798-41C>T
chr19
8645786
A
C
missense_variant
MODERATE
ADAMTS10
c.3303T>G
chr19
4117705
T
C
intron_variant
MODIFIER
MAP2K2
c.93-78A>G
chr19
4117290
T
C
intron_variant
MODIFIER
MAP2K2
c.303+127A>G
chr19
4110408
T
C
intron_variant
MODIFIER
MAP2K2
c.450+99A>G
chr19
4101062
G
T
synonymous_variant
LOW
MAP2K2
c.660C>A
chr19
4099187
T
C
intron_variant
MODIFIER
MAP2K2
c.919+12A>G
chr18
59828769
C
T
intron_variant
MODIFIER
PIGN
c.-32-151G>A
chr18
59824490
A
T
intron_variant
MODIFIER
PIGN
c.344-30T>A