Download: Excel

Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 1 196965193 196965193 G > A CFHR5 NM_030787.3:c.832G>A
NP_110414.1:p.Gly278Ser
166/8685 0.00961 5 non_synonymous Benign
View 1 197072560 197072560 A > G ASPM ASPM NM_001206846.1:c.4066-7266T>C
NM_018136.4:c.5821T>C
NP_060606.3:p.Cys1941Arg
63/8685 0.00363 5 non_synonymous Benign
View 1 197072802 197072802 G > A ASPM ASPM NM_001206846.1:c.4066-7508C>T
NM_018136.4:c.5579C>T
NP_060606.3:p.Ala1860Val
62/8685 0.00357 5 non_synonymous Benign
View 1 197073318 197073318 G > A ASPM ASPM NM_001206846.1:c.4066-8024C>T
NM_018136.4:c.5063C>T
NP_060606.3:p.Thr1688Ile
63/8685 0.00363 5 non_synonymous Benign
View 1 197112094 197112094 T > C ASPM ASPM NM_001206846.1:c.1288A>G
NM_018136.4:c.1288A>G
NP_001193775.1:p.Arg430Gly
NP_060606.3:p.Arg430Gly
57/8685 0.00328 5 non_synonymous Benign
View 1 215802247 215802247 C > T USH2A ENST00000307340.3:c.15428G>A
ENSP00000305941.3:p.Arg5143His
119/10521 0.00575 5 Benign
View 1 215802298 215802298 A > G USH2A ENST00000307340.3:c.15377T>C
ENSP00000305941.3:p.Ile5126Thr
154/10521 0.00756 5 Benign
View 1 215848808 215848808 A > G USH2A ENST00000307340.3:c.12445T>C
ENSP00000305941.3:p.Trp4149Arg
68/10521 0.00323 5 Benign
View 1 216051125 216051125 G > A USH2A ENST00000307340.3:c.8656C>T
ENSP00000305941.3:p.Leu2886Phe
974/10521 0.04852 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 1 216166454 216166454 T > G USH2A ENST00000307340.3:c.6713A>C
ENSP00000305941.3:p.Glu2238Ala
464/10521 0.02234 5 Benign
View 1 216172299 216172299 C > G USH2A ENST00000307340.3:c.6587G>C
ENSP00000305941.3:p.Ser2196Thr
226/10521 0.01126 5 Benign
View 1 218520315 218520315 G > A TGFB2 TGFB2 NM_001135599.2:c.272G>A
NM_003238.3:c.272G>A
NP_001129071.1:p.Arg91His
NP_003229.1:p.Arg91His
74/8685 0.00426 5 Benign
View 1 220369746 220369747 AA > - RAB3GAP2 NM_012414.3:c.812-7_812-6del
66/10521 0.00318 5 polypyrimidine_tract Benign
View 1 235909815 235909815 A > T LYST NM_000081.3:c.7793T>A
NP_000072.2:p.Phe2598Tyr
142/10521 0.00708 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 1 235926164 235926164 T > - LYST NM_000081.3:c.6122-13del
145/10482 0.00725 5 Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract Benign
View 1 236914923 236914923 A > G ACTN2 ACTN2 ACTN2 ENST00000542672.1:c.1810A>G
NM_001278344.1:c.1186A>G
ENST00000366578.4:c.1810A>G
ENSP00000443495.1:p.Met604Val
NP_001265273.1:p.Met396Val
ENSP00000355537.4:p.Met604Val
95/8685 0.00564 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 1 237995837 237995837 C > G RYR2 NM_001035.2:c.14809-15C>G
116/8646 0.00671 5 polypyrimidine_tract Benign
View 1 240256187 240256187 G > A FMN2 NM_020066.4:c.778G>A
NP_064450.3:p.Ala260Thr
50/8685 0.00294 3 non_synonymous Benign
View 1 247587771 247587771 C > T NLRP3 NLRP3 NLRP3 NLRP3 NLRP3 ENST00000366497.2:c.1026C>T
ENST00000391827.2:c.1026C>T
ENST00000336119.3:c.1026C>T
ENST00000391828.3:c.1026C>T
ENST00000348069.2:c.1026C>T
ENSP00000355453.2:p.Pro342=
ENSP00000375703.2:p.Pro342=
ENSP00000337383.3:p.Pro342=
ENSP00000375704.3:p.Pro342=
ENSP00000294752.3:p.Pro342=
88/8686 0.00512 5 Benign
View 1 247592912 247592912 A > G NLRP3 NLRP3 NLRP3 NLRP3 NLRP3 ENST00000366497.2:c.2182A>G
ENST00000391827.2:c.2156+4011A>G
ENST00000336119.3:c.2182A>G
ENST00000391828.3:c.2182A>G
ENST00000348069.2:c.2156+4011A>G
ENSP00000355453.2:p.Ser728Gly
ENSP00000337383.3:p.Ser728Gly
ENSP00000375704.3:p.Ser728Gly
15/8685 0.00086 5 Benign
View 1 247608148 247608148 C > T NLRP3 NLRP3 NLRP3 NLRP3 NLRP3 ENST00000366497.2:c.2840+25C>T
ENST00000391827.2:c.2840+25C>T
ENST00000336119.3:c.3011+25C>T
ENST00000391828.3:c.3011+25C>T
ENST00000348069.2:c.2669+25C>T
154/8646 0.00902 4 Benign
View 10 43601830 43601830 G > A RET RET ENST00000340058.5:c.874G>A
ENST00000355710.3:c.874G>A
ENSP00000344798.4:p.Val292Met
ENSP00000347942.3:p.Val292Met
8/8685 0.00046 5 Benign
View 10 43606650 43606650 C > T RET RET ENST00000340058.5:c.1264-5C>T
ENST00000355710.3:c.1264-5C>T
161/8685 0.0095 5 Benign
View 10 43609994 43609994 C > T RET RET ENST00000340058.5:c.1946C>T
ENST00000355710.3:c.1946C>T
ENSP00000344798.4:p.Ser649Leu
ENSP00000347942.3:p.Ser649Leu
8/8685 0.00046 5 Benign
View 10 55581883 55581885 GTT > - PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 NM_001142763.1:c.5622_5624del
NM_001142773.1:c.5532_5534del
NM_001142765.1:c.5394_5396del
NM_001142764.1:c.5607_5609del
NM_033056.3:c.5601_5603del
NM_001142767.1:c.5481_5483del
NM_001142766.1:c.5592_5594del
NM_001142769.1:c.4409+3011_4409+3013del
NM_001142768.1:c.5541_5543del
NM_001142770.1:c.4373+3011_4373+3013del
NM_001142772.1:c.4373+3011_4373+3013del
NM_001142771.1:c.4388+3011_4388+3013del
NP_001136235.1:p.Thr1876del
NP_001136245.1:p.Thr1846del
NP_001136237.1:p.Thr1800del
NP_001136236.1:p.Thr1871del
NP_149045.3:p.Thr1869del
NP_001136239.1:p.Thr1829del
NP_001136238.1:p.Thr1866del
NP_001136240.1:p.Thr1849del
142/8685 0.00841 5 Benign
View 10 72360648 72360648 C > T PRF1 PRF1 NM_001083116.1:c.11G>A
NM_005041.4:c.11G>A
NP_001076585.1:p.Arg4His
NP_005032.2:p.Arg4His
125/10521 0.00608 5 Benign
View 10 73406348 73406348 G > A CDH23 CDH23 CDH23 CDH23 NM_001171931.1:c.1423G>A
NM_022124.5:c.1423G>A
NM_001171930.1:c.1423G>A
NM_052836.3:c.1423G>A
NP_001165402.1:p.Val475Met
NP_071407.4:p.Val475Met
NP_001165401.1:p.Val475Met
NP_443068.1:p.Val475Met
93/10521 0.00447 5 Benign
View 10 73476019 73476019 G > A C10orf105 C10orf105 CDH23 CDH23 NM_001164375.2:c.76C>T
NM_001168390.1:c.76C>T
NM_022124.5:c.3369+3449G>A
NM_001171930.1:c.3369+3449G>A
NP_001157847.1:p.Pro26Ser
NP_001161862.1:p.Pro26Ser
59/10482 0.00281 5 non_synonymous Benign
View 10 76735749 76735749 A > G KAT6B KAT6B KAT6B NM_001256469.1:c.1117+537A>G
NM_012330.3:c.1654A>G
NM_001256468.1:c.1444+210A>G
NP_036462.2:p.Thr552Ala
5/8685 0.00035 5 non_synonymous Benign
View 10 76781852 76781863 GAGGAGGAAGAA > - KAT6B KAT6B KAT6B NM_001256469.1:c.2376_2387del
NM_012330.3:c.3252_3263del
NM_001256468.1:c.2703_2714del
NP_001243398.1:p.Glu794_Glu797del
NP_036462.2:p.Glu1086_Glu1089del
NP_001243397.1:p.Glu903_Glu906del
147/8685 0.00846 5 in_frame_indel Benign
View 10 76788267 76788267 A > G KAT6B KAT6B KAT6B NM_001256469.1:c.2809A>G
NM_012330.3:c.3685A>G
NM_001256468.1:c.3136A>G
NP_001243398.1:p.Ser937Gly
NP_036462.2:p.Ser1229Gly
NP_001243397.1:p.Ser1046Gly
1/8685 6.0e-05 5 non_synonymous Benign
View 10 76788660 76788668 GAAGAGGAA > - KAT6B KAT6B KAT6B NM_001256469.1:c.3221_3229del
NM_012330.3:c.4097_4105del
NM_001256468.1:c.3548_3556del
NP_001243398.1:p.Glu1074_Glu1076del
NP_036462.2:p.Glu1366_Glu1368del
NP_001243397.1:p.Glu1183_Glu1185del
176/8686 0.01019 5 in_frame_indel Benign
View 10 82034261 82034261 C > T MAT1A NM_000429.2:c.1085+15G>A
67/8646 0.00399 5 five_prime_intronic Benign
View 10 89621800 89621800 A > T KLLN NM_001126049.1:c.445T>A
NP_001119521.1:p.Trp149Arg
84/8685 0.00484 5 Benign
View 10 89621853 89621853 T > C KLLN NM_001126049.1:c.392A>G
NP_001119521.1:p.Asn131Ser
84/8685 0.00484 5 Benign
View 10 89621863 89621863 G > C KLLN NM_001126049.1:c.382C>G
NP_001119521.1:p.Arg128Gly
69/8685 0.00397 5 Benign
View 10 89720634 89720635 - > T PTEN NM_000314.4:c.802-3dupT
281/9347 0.01541 5 Benign
View 10 89720635 89720636 - > T PTEN NM_000314.4:c.802-3dupT
153/9346 0.0084 5 Benign
View 10 89720636 89720637 - > T PTEN NM_000314.4:c.802-3dupT
46/9346 0.00251 5 Benign
View 10 94413508 94413508 G > C KIF11 NM_004523.3:c.3126G>C
NP_004514.2:p.Leu1042Phe
87/8685 0.00501 5 non_synonymous Benign
View 10 95518462 95518462 T > C LGI1 ENST00000371418.4:c.216-55T>C
139/8646 0.00821 5 Benign
View 10 102732739 102732739 C > T SEMA4G SEMA4G NM_001203244.1:c.70C>T
NM_017893.3:c.70C>T
NP_001190173.1:p.Arg24Trp
NP_060363.2:p.Arg24Trp
6/8685 0.00035 5 non_synonymous Benign
View 10 103825629 103825629 C > T HPS6 NM_024747.5:c.398C>T
NP_079023.2:p.Ala133Val
37/8685 0.0023 5 non_synonymous Benign
View 10 112771351 112771352 - > T SHOC2 SHOC2 NM_001269039.1:c.1403-7dupT
NM_007373.3:c.1541-7dupT
29/8646 0.00168 5 three_prime_flank Benign
View 10 112771421 112771421 A > G SHOC2 SHOC2 NM_001269039.1:c.1456A>G
NM_007373.3:c.1594A>G
NP_001255968.1:p.Ser486Gly
NP_031399.2:p.Ser532Gly
21/8685 0.00121 5 non_synonymous Benign
View 10 123310871 123310871 A > G FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 FGFR2 NR_073009.1:n.859T>C
NM_001144913.1:c.557T>C
NM_001144914.1:c.557T>C
NM_000141.4:c.557T>C
NM_023029.2:c.290T>C
NM_001144919.1:c.290T>C
NM_001144915.1:c.290T>C
NM_001144916.1:c.212T>C
NM_001144917.1:c.557T>C
NM_022970.3:c.557T>C
NM_001144918.1:c.212T>C
NP_001138385.1:p.Met186Thr
NP_001138386.1:p.Met186Thr
NP_000132.3:p.Met186Thr
NP_075418.1:p.Met97Thr
NP_001138391.1:p.Met97Thr
NP_001138387.1:p.Met97Thr
NP_001138388.1:p.Met71Thr
NP_001138389.1:p.Met186Thr
NP_075259.4:p.Met186Thr
NP_001138390.1:p.Met71Thr
598/8690 0.03907 5 Benign
View 10 131760506 131760506 G > A EBF3 NM_001005463.2:c.356-16C>T
11/8646 0.00064 5 three_prime_flank Benign
View 11 640253 640253 C > G DRD4 NM_000797.3:c.1004C>G
NP_000788.2:p.Ala335Gly
57/8685 0.00334 5 non_synonymous Benign
View 11 1271906 1271906 C > T MUC5B NM_002458.2:c.13796C>T
NP_002449.2:p.Thr4599Met
97/8646 0.0059 5 non_synonymous Benign
View 11 5248243 5248243 A > G HBB NM_000518.4:c.9T>C
NP_000509.1:p.His3=
9817/10521 0.78766 5 Benign
Displaying 50 through 100 of 978 variants