Download: Excel

Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 1 27100171 27100171 C > T ARID1A TRNAN-GUU ARID1A NM_139135.2:c.3967C>T
NM_006015.4:c.3967C>T
NP_624361.1:p.Arg1323Cys
NP_006006.3:p.Arg1323Cys
2/9594 0.0001 4 non_synonymous Likely Benign
View 1 27100181 27100182 - > GCA ARID1A TRNAN-GUU ARID1A NM_139135.2:c.3999_4001dupGCA
NM_006015.4:c.3999_4001dupGCA
NP_624361.1:p.Gln1334dup
NP_006006.3:p.Gln1334dup
39/9594 0.00208 4 in_frame_indel Likely Benign
View 1 27100369 27100369 A > G ARID1A TRNAN-GUU ARID1A NM_139135.2:c.4081A>G
NM_006015.4:c.4081A>G
NP_624361.1:p.Met1361Val
NP_006006.3:p.Met1361Val
5/9594 0.00026 4 non_synonymous Likely Benign
View 1 27105617 27105617 C > T ARID1A TRNAN-GUU ARID1A NM_139135.2:c.4577C>T
NM_006015.4:c.5228C>T
NP_624361.1:p.Thr1526Met
NP_006006.3:p.Thr1743Met
4/9594 0.00021 4 non_synonymous Likely Benign
View 1 27105700 27105700 C > T ARID1A TRNAN-GUU ARID1A NM_139135.2:c.4660C>T
NM_006015.4:c.5311C>T
NP_624361.1:p.Pro1554Ser
NP_006006.3:p.Pro1771Ser
2/9594 0.0001 4 non_synonymous Likely Benign
View 1 27105838 27105838 G > A ARID1A TRNAN-GUU ARID1A NM_139135.2:c.4798G>A
NM_006015.4:c.5449G>A
NP_624361.1:p.Val1600Ile
NP_006006.3:p.Val1817Ile
8/9594 0.00042 4 non_synonymous Likely Benign
View 1 27106106 27106106 G > A ARID1A TRNAN-GUU ARID1A NM_139135.2:c.5066G>A
NM_006015.4:c.5717G>A
NP_624361.1:p.Arg1689Gln
NP_006006.3:p.Arg1906Gln
55/9594 0.00287 4 non_synonymous Likely Benign
View 1 27106333 27106333 G > A ARID1A TRNAN-GUU ARID1A NM_139135.2:c.5293G>A
NM_006015.4:c.5944G>A
NP_624361.1:p.Val1765Ile
NP_006006.3:p.Val1982Ile
6/9594 0.00031 4 Likely Benign
View 1 27121140 27121140 C > T PIGV TRNAN-GUU PIGV NM_001202554.1:c.615C>T
NM_017837.3:c.615C>T
NP_001189483.1:p.Asn205=
NP_060307.2:p.Asn205=
47/9594 0.00245 4 Likely Benign
View 1 27124222 27124222 C > T PIGV TRNAN-GUU PIGV NM_001202554.1:c.1369C>T
NM_017837.3:c.1369C>T
NP_001189483.1:p.Leu457Phe
NP_060307.2:p.Leu457Phe
6/9594 0.00031 4 Likely Benign
View 1 27683230 27683232 CTT > - TRNAN-GUU MAP3K6 NM_004672.3:c.3373_3375del
NP_004663.3:p.Lys1125del
196/9594 0.01021 4 in_frame_indel Likely Benign
View 1 27684750 27684750 G > A TRNAN-GUU MAP3K6 NM_004672.3:c.2837C>T
NP_004663.3:p.Pro946Leu
63/9594 0.00328 4 Likely Benign
View 1 27875626 27875626 C > T TRNAN-GUU AHDC1 NM_001029882.2:c.3001G>A
NP_001025053.1:p.Ala1001Thr
2/9594 0.0001 4 non_synonymous Likely Benign
View 1 27877117 27877117 C > T TRNAN-GUU AHDC1 NM_001029882.2:c.1510G>A
NP_001025053.1:p.Val504Met
39/9594 0.00203 4 non_synonymous Likely Benign
View 1 27877216 27877216 C > T TRNAN-GUU AHDC1 NM_001029882.2:c.1411G>A
NP_001025053.1:p.Val471Met
157/9594 0.00823 4 non_synonymous Likely Benign
View 1 27877392 27877392 C > T TRNAN-GUU AHDC1 NM_001029882.2:c.1235G>A
NP_001025053.1:p.Arg412His
110/9594 0.00573 4 non_synonymous Likely Benign
View 1 27877816 27877816 G > C TRNAN-GUU AHDC1 NM_001029882.2:c.811C>G
NP_001025053.1:p.Pro271Ala
8/9594 0.00042 3 non_synonymous Likely Benign
View 1 27878341 27878341 G > A TRNAN-GUU AHDC1 NM_001029882.2:c.286C>T
NP_001025053.1:p.Arg96Cys
12/9594 0.00063 4 non_synonymous Likely Benign
View 1 27878527 27878527 T > G TRNAN-GUU AHDC1 NM_001029882.2:c.100A>C
NP_001025053.1:p.Thr34Pro
114/9594 0.00594 4 non_synonymous Likely Benign
View 1 29527028 29527028 G > A TRNAN-GUU MECR MECR NM_016011.2:c.830C>T
NM_001024732.1:c.602C>T
NP_057095.2:p.Ala277Val
NP_001019903.1:p.Ala201Val
117/9555 0.00617 4 non_synonymous Likely Benign
View 1 33478877 33478877 C > T AK2 TRNAN-GUU AK2 AK2 AK2 AK2 NM_001625.3:c.625G>A
NM_001199199.1:c.601G>A
NM_013411.4:c.625G>A
NR_037591.1:n.826G>A
NR_037592.1:n.826G>A
NP_001616.1:p.Ala209Thr
NP_001186128.1:p.Ala201Thr
NP_037543.1:p.Ala209Thr
173/9594 0.00912 4 non_synonymous Likely Benign
View 1 38006337 38006337 C > T TRNAN-GUU SNIP1 NM_024700.3:c.347G>A
NP_078976.2:p.Arg116Gln
12/9594 0.00063 4 non_synonymous Likely Benign
View 1 40546065 40546065 T > C TRNAN-GUU PPT1 PPT1 NM_001142604.1:c.318+4A>G
NM_000310.3:c.627+4A>G
8/11422 0.00039 4 five_prime_flank Likely Benign
View 1 40557075 40557075 C > T TRNAN-GUU PPT1 PPT1 NM_001142604.1:c.125-1891G>A
NM_000310.3:c.363-4G>A
113/11422 0.00503 4 Likely Benign
View 1 43395555 43395555 C > T TRNAN-GUU SLC2A1 NM_006516.2:c.668G>A
NP_006507.2:p.Arg223Gln
2/9594 0.0001 4 Likely Benign
View 1 43396718 43396718 G > T TRNAN-GUU SLC2A1 NM_006516.2:c.274C>A
NP_006507.2:p.Arg92=
2/9594 0.00016 4 Likely Benign
View 1 43896217 43896217 G > A TRNAN-GUU SZT2 NM_015284.3:c.4360G>A
NP_056099.3:p.Val1454Ile
92/9594 0.00479 4 non_synonymous Likely Benign
View 1 43897114 43897114 A > G TRNAN-GUU SZT2 NM_015284.3:c.4854-17A>G
38/9555 0.00199 4 Common ExAC MAF original cat: TYPE_3 - three_prime_flank Likely Benign
View 1 43900858 43900858 C > G TRNAN-GUU SZT2 NM_015284.3:c.5734-13C>G
5/9555 0.00026 4 polypyrimidine_tract Likely Benign
View 1 43907225 43907225 T > C TRNAN-GUU SZT2 NM_015284.3:c.7391T>C
NP_056099.3:p.Val2464Ala
97/9594 0.00516 4 non_synonymous Likely Benign
View 1 43907236 43907236 G > A TRNAN-GUU SZT2 NM_015284.3:c.7402G>A
NP_056099.3:p.Val2468Ile
36/9594 0.00188 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 43916939 43916939 A > C HYI TRNAN-GUU HYI HYI SZT2 NM_001190880.2:c.804T>G
NM_031207.5:c.*42T>G
NM_001243526.1:c.*42T>G
NM_015284.3:c.*788A>C
NP_001177809.1:p.Asp268Glu
44/9555 0.0023 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 43917601 43917601 C > T HYI TRNAN-GUU HYI HYI SZT2 NM_001190880.2:c.505+5G>A
NM_031207.5:c.505+5G>A
NM_001243526.1:c.580+5G>A
NM_015284.3:c.*1450C>T
42/9555 0.0022 4 Common ExAC MAF original cat: TYPE_3 - five_prime_flank Likely Benign
View 1 43919066 43919066 C > T HYI TRNAN-GUU HYI HYI SZT2 NM_001190880.2:c.302G>A
NM_031207.5:c.302G>A
NM_001243526.1:c.284+18G>A
NM_015284.3:c.*2915C>T
NP_001177809.1:p.Gly101Asp
NP_112484.3:p.Gly101Asp
16/9555 0.00084 4 non_synonymous Likely Benign
View 1 45345481 45345481 T > C EIF2B3 TRNAN-GUU EIF2B3 EIF2B3 NM_020365.4:c.975+9A>G
NM_001166588.2:c.975+9A>G
NM_001261418.1:c.975+9A>G
81/9594 0.00422 4 Common ExAC MAF original cat: TYPE_3 - five_prime_intronic Likely Benign
View 1 45799121 45799121 G > A TRNAN-GUU MUTYH MUTYH MUTYH MUTYH MUTYH MUTYH NM_001128425.1:c.312C>T
NM_001048171.1:c.270C>T
NM_012222.2:c.303C>T
NM_001048172.1:c.231C>T
NM_001048173.1:c.228C>T
NM_001048174.1:c.228C>T
NP_001121897.1:p.Tyr104=
NP_001041636.1:p.Tyr90=
NP_036354.1:p.Tyr101=
NP_001041637.1:p.Tyr77=
NP_001041638.1:p.Tyr76=
NP_001041639.1:p.Tyr76=
27/9594 0.00141 4 Likely Benign
View 1 45808982 45808982 G > A TRNAN-GUU TOE1 NM_025077.3:c.1141G>A
NP_079353.3:p.Glu381Lys
48/9555 0.00251 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 47746113 47746113 T > C STIL TRNAN-GUU STIL NM_001048166.1:c.2017A>G
NM_003035.2:c.2017A>G
NP_001041631.1:p.Ser673Gly
NP_003026.2:p.Ser673Gly
68/9594 0.00365 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 47746675 47746675 C > G STIL TRNAN-GUU STIL NM_001048166.1:c.1455G>C
NM_003035.2:c.1455G>C
NP_001041631.1:p.Leu485Phe
NP_003026.2:p.Leu485Phe
52/9594 0.00271 4 Likely Benign
View 1 47753301 47753301 C > T STIL TRNAN-GUU STIL NM_001048166.1:c.1055G>A
NM_003035.2:c.1055G>A
NP_001041631.1:p.Arg352His
NP_003026.2:p.Arg352His
24/9594 0.00125 3 non_synonymous Likely Benign
View 1 47767215 47767215 G > A STIL TRNAN-GUU STIL NM_001048166.1:c.453+18C>T
NM_003035.2:c.453+18C>T
85/9556 0.0046 4 Common ExAC MAF original cat: TYPE_3 - five_prime_intronic Likely Benign
View 1 52840559 52840559 C > T ORC1 TRNAN-GUU ORC1 ORC1 NM_001190818.1:c.2314G>A
NM_004153.3:c.2314G>A
NM_001190819.1:c.2299G>A
NP_001177747.1:p.Val772Ile
NP_004144.2:p.Val772Ile
NP_001177748.1:p.Val767Ile
104/9594 0.00542 4 non_synonymous Likely Benign
View 1 52867839 52867839 C > G ORC1 TRNAN-GUU ORC1 ORC1 NM_001190818.1:c.57G>C
NM_004153.3:c.57G>C
NM_001190819.1:c.57G>C
NP_001177747.1:p.Arg19Ser
NP_004144.2:p.Arg19Ser
NP_001177748.1:p.Arg19Ser
137/9594 0.00724 4 non_synonymous Likely Benign
View 1 61872217 61872217 C > - NFIA TRNAN-GUU NFIA NFIA NFIA NM_001145512.1:c.1390-5del
NM_005595.4:c.1255-5del
NM_001134673.3:c.1255-5del
NM_001145511.1:c.1231-5del
584/9555 0.03166 4 three_prime_flank Likely Benign
View 1 61872217 61872218 CC > - NFIA TRNAN-GUU NFIA NFIA NFIA NM_001145512.1:c.1390-6_1390-5del
NM_005595.4:c.1255-6_1255-5del
NM_001134673.3:c.1255-6_1255-5del
NM_001145511.1:c.1231-6_1231-5del
218/9555 0.01204 4 three_prime_flank Likely Benign
View 1 63063616 63063616 C > T DOCK7 TRNAN-GUU DOCK7 ANGPTL3 DOCK7 DOCK7 DOCK7 NM_001272000.1:c.1683-11321G>A
NM_001271999.1:c.1683-11321G>A
NM_014495.3:c.379C>T
NM_033407.3:c.1683-11321G>A
NM_001272002.1:c.1683-11321G>A
NM_001272001.1:c.1683-11321G>A
NP_055310.1:p.Leu127Phe
122/9595 0.00646 4 non_synonymous Likely Benign
View 1 63091086 63091086 A > - DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 DOCK7 NM_001272000.1:c.1283-14del
NM_001271999.1:c.1283-14del
NM_033407.3:c.1283-14del
NM_001272002.1:c.1283-14del
NM_001272001.1:c.1283-14del
141/9555 0.00743 4 polypyrimidine_tract Likely Benign
View 1 63877667 63877667 A > G TRNAN-GUU ALG6 NM_013339.3:c.751A>G
NP_037471.2:p.Thr251Ala
59/11422 0.00267 4 Common ExAC MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 1 64089432 64089432 G > A PGM1 TRNAN-GUU PGM1 PGM1 NM_001172818.1:c.300+1G>A
NM_002633.2:c.247-5664G>A
NM_001172819.1:c.-345-5664G>A
200/9594 0.01048 4 donor_site Likely Benign
View 1 65830300 65830300 T > G TRNAN-GUU DNAJC6 DNAJC6 DNAJC6 NM_001256864.1:c.194-18T>G
NM_001256865.1:c.-17-18T>G
NM_014787.3:c.23-18T>G
67/9555 0.00424 4 three_prime_flank Likely Benign
Displaying 50 through 100 of 3,053 variants