view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UBE2I_chr16_1304636_1332017 | 1307603 | T | TGAATGAG others(9): Show |
upstream_gene_variant | MODIFIER | HG03490.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0071 |
2 | 362 | 0.0055 | 16 | c.-21 others(27): Show |
UBE2I | ENSG00000103275.22 | transcript | ENST00000397514.8 | protein_coding | 2032 | chr16 | TogoVar | |||||||
UBE2I_chr16_1304636_1332017 | 1319331 | T | TGCGGTGT others(9): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0034 | a0001c0001t0007g0206 a0001c0001t0034g0046 |
2 | 310 | 0.0065 | 16 | c.224 others(31): Show |
UBE2I | ENSG00000103275.22 | transcript | ENST00000397514.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
UBE2I_chr16_1304636_1332017 | 1322827 | T | TAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01081.hp2 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0113 a0001c0001t0001g0120 a0001c0001t0004g0068 |
3 | 8 | 0.3750 | 16 | c.414 others(33): Show |
UBE2I | ENSG00000103275.22 | transcript | ENST00000397514.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
UBE2J2_chr1_1248912_1278854 | 1257393 | A | ACCGCCCC others(9): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0187 | 1 | 181 | 0.0055 | 16 | c.173 others(29): Show |
UBE2J2 | ENSG00000160087.21 | transcript | ENST00000349431.11 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
UBE2J2_chr1_1248912_1278854 | 1265603 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02647.hp1 HG02647.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0002 | a0001c0001t0002g0055 a0001c0001t0002g0164 a0001c0006t0002g0056 |
3 | 46 | 0.0652 | 16 | c.132 others(33): Show |
UBE2J2 | ENSG00000160087.21 | transcript | ENST00000349431.11 | protein_coding | 2/6 | chr1 | TogoVar | |||||||
UBE2J2_chr1_1248912_1278854 | 1271974 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0283 | 1 | 97 | 0.0103 | 16 | c.-1+ others(31): Show |
UBE2J2 | ENSG00000160087.21 | transcript | ENST00000349431.11 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
UBE2K_chr4_39693136_39787792 | 39714546 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0324 | 1 | 223 | 0.0045 | 16 | c.63+ others(33): Show |
UBE2K | ENSG00000078140.14 | transcript | ENST00000261427.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
UBE2K_chr4_39693136_39787792 | 39714548 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02735.hp2 NA18970.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0292 a0001c0001t0002g0297 a0001c0001t0002g0329 |
3 | 190 | 0.0158 | 16 | c.63+ others(33): Show |
UBE2K | ENSG00000078140.14 | transcript | ENST00000261427.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
UBE2K_chr4_39693136_39787792 | 39714550 | A | ATATTTTT others(9): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0302 | 1 | 14 | 0.0714 | 16 | c.63+ others(33): Show |
UBE2K | ENSG00000078140.14 | transcript | ENST00000261427.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
UBE2K_chr4_39693136_39787792 | 39714550 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02083.hp1 NA18951.hp1 NA18955.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(1): Show | a0001c0001t0001g0213 a0001c0001t0002g0274 a0001c0001t0002g0275 others(6): Show |
9 | 22 | 0.4091 | 16 | c.63+ others(33): Show |
UBE2K | ENSG00000078140.14 | transcript | ENST00000261427.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
UBE2K_chr4_39693136_39787792 | 39716264 | G | GTGTCTGT others(9): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02258.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0013 | a0001c0001t0012g0108 a0001c0001t0012g0109 a0001c0001t0013g0008 others(1): Show |
4 | 269 | 0.0149 | 16 | c.63+ others(33): Show |
UBE2K | ENSG00000078140.14 | transcript | ENST00000261427.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
UBE2K_chr4_39693136_39787792 | 39765908 | T | TATACATA others(9): Show |
intron_variant | MODIFIER | HG02486.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0013 a0001c0001t0010g0034 |
2 | 107 | 0.0187 | 16 | c.300 others(33): Show |
UBE2K | ENSG00000078140.14 | transcript | ENST00000261427.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
UBE2L3_chr22_21562714_21629034 | 21597775 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 30 | 0.0333 | 16 | c.123 others(33): Show |
UBE2L3 | ENSG00000185651.16 | transcript | ENST00000342192.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
UBE2L3_chr22_21562714_21629034 | 21612643 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00609.hp1 HG03490.hp2 NA18992.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 a0001c0001t0002g0095 a0001c0001t0002g0111 others(1): Show |
4 | 148 | 0.0270 | 16 | c.310 others(33): Show |
UBE2L3 | ENSG00000185651.16 | transcript | ENST00000342192.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
UBE2L5_chr13_30417493_30434758 | 30421979 | G | GGGGGAAG others(9): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG01168.hp2 HG01169.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0043 | a0001c0001t0001g0030 a0001c0001t0004g0004 a0001c0001t0004g0028 others(2): Show |
17 | 427 | 0.0398 | 16 | c.-14 others(27): Show |
UBE2L5 | ENSG00000236444.5 | transcript | ENST00000635918.2 | protein_coding | 513 | chr13 | TogoVar | |||||||
UBE2N_chr12_93400684_93446947 | 93406275 | C | CAAAAAAA others(9): Show |
3_prime_UTR_variant | MODIFIER | HG01070.hp1 HG02004.hp2 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0215 a0001c0001t0031g0216 a0001c0001t0031g0254 |
3 | 59 | 0.0508 | 16 | c.*37 others(27): Show |
UBE2N | ENSG00000177889.10 | transcript | ENST00000318066.7 | protein_coding | 4/4 | 3763 | chr12 | TogoVar | ||||||
UBE2O_chr17_76384456_76458152 | 76388640 | C | CTTTTTTT others(9): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 HG01192.hp2 HG02922.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0232 a0001c0001t0001g0315 a0001c0001t0002g0012 others(3): Show |
7 | 140 | 0.0500 | 16 | c.*23 others(27): Show |
UBE2O | ENSG00000175931.13 | transcript | ENST00000319380.12 | protein_coding | 815 | chr17 | TogoVar | |||||||
UBE2O_chr17_76384456_76458152 | 76415795 | C | CTCTGTGT others(9): Show |
intron_variant | MODIFIER | HG03927.hp1 HG06807.hp1 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0054 a0001c0001t0001g0337 a0001c0001t0002g0274 |
3 | 180 | 0.0167 | 16 | c.418 others(35): Show |
UBE2O | ENSG00000175931.13 | transcript | ENST00000319380.12 | protein_coding | 1/17 | chr17 | TogoVar | |||||||
UBE2O_chr17_76384456_76458152 | 76423693 | A | AAAATAAA others(9): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01255.hp2 HG02015.hp2 others(4): Show |
a0001a0003a0009 | a0001c0001a0003c0005a0009c0009 | a0001c0001t0001a0001c0001t0002a0003c0005t0002others(1): Show | a0001c0001t0001g0230 a0001c0001t0001g0260 a0001c0001t0001g0337 others(4): Show |
7 | 47 | 0.1489 | 16 | c.418 others(35): Show |
UBE2O | ENSG00000175931.13 | transcript | ENST00000319380.12 | protein_coding | 1/17 | chr17 | TogoVar | |||||||
UBE2O_chr17_76384456_76458152 | 76423725 | T | TAAATAAA others(9): Show |
intron_variant | MODIFIER | HG02809.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 a0001c0001t0002g0122 |
2 | 355 | 0.0056 | 16 | c.418 others(35): Show |
UBE2O | ENSG00000175931.13 | transcript | ENST00000319380.12 | protein_coding | 1/17 | chr17 | TogoVar | |||||||
UBE2Q1_chr1_154543577_154563662 | 154560104 | A | AATATATA others(9): Show |
upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0015 | 1 | 271 | 0.0037 | 16 | c.-15 others(27): Show |
UBE2Q1 | ENSG00000160714.10 | transcript | ENST00000292211.5 | protein_coding | 1443 | chr1 | TogoVar | |||||||
UBE2Q1_chr1_154543577_154563662 | 154560131 | A | ATATATAT others(9): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0007 | 1 | 284 | 0.0035 | 16 | c.-15 others(27): Show |
UBE2Q1 | ENSG00000160714.10 | transcript | ENST00000292211.5 | protein_coding | 1470 | chr1 | TogoVar | |||||||
UBE2Q2_chr15_75838447_75906078 | 75856246 | C | CGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0100 | 1 | 297 | 0.0034 | 16 | c.282 others(33): Show |
UBE2Q2 | ENSG00000140367.12 | transcript | ENST00000267938.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UBE2Q2_chr15_75838447_75906078 | 75856269 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG02630.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 a0001c0001t0001g0162 |
2 | 174 | 0.0115 | 16 | c.282 others(33): Show |
UBE2Q2 | ENSG00000140367.12 | transcript | ENST00000267938.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
UBE2R2_chr9_33812160_33925399 | 33859799 | T | TGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0318 | 1 | 247 | 0.0040 | 16 | c.178 others(35): Show |
UBE2R2 | ENSG00000107341.5 | transcript | ENST00000263228.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBE2R2_chr9_33812160_33925399 | 33877819 | G | GTCTCTCT others(9): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0003 | 1 | 357 | 0.0028 | 16 | c.178 others(33): Show |
UBE2R2 | ENSG00000107341.5 | transcript | ENST00000263228.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBE2R2_chr9_33812160_33925399 | 33877823 | G | GTCTGTCT others(9): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0331 | 1 | 216 | 0.0046 | 16 | c.178 others(33): Show |
UBE2R2 | ENSG00000107341.5 | transcript | ENST00000263228.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBE2R2_chr9_33812160_33925399 | 33884198 | A | ATCTCTCT others(9): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00597.hp2 HG00735.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0002g0214 others(18): Show |
21 | 70 | 0.3000 | 16 | c.178 others(33): Show |
UBE2R2 | ENSG00000107341.5 | transcript | ENST00000263228.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBE2R2_chr9_33812160_33925399 | 33891047 | G | GTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01928.hp1 HG02293.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017 | a0001c0001t0002g0217 a0001c0001t0002g0269 a0001c0001t0002g0270 others(4): Show |
7 | 163 | 0.0429 | 16 | c.264 others(33): Show |
UBE2R2 | ENSG00000107341.5 | transcript | ENST00000263228.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBE2R2_chr9_33812160_33925399 | 33891055 | G | GTTTTTTT others(9): Show |
intron_variant | MODIFIER | NA18955.hp2 NA18965.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0238 a0001c0001t0002g0243 |
2 | 316 | 0.0063 | 16 | c.264 others(33): Show |
UBE2R2 | ENSG00000107341.5 | transcript | ENST00000263228.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBE2R2_chr9_33812160_33925399 | 33909006 | T | TTAAATAA others(9): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG01496.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0018others(3): Show | a0001c0001t0004g0315 a0001c0001t0004g0324 a0001c0001t0004g0325 others(40): Show |
43 | 244 | 0.1762 | 16 | c.363 others(33): Show |
UBE2R2 | ENSG00000107341.5 | transcript | ENST00000263228.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
UBE2T_chr1_202326657_202346936 | 202332907 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02148.hp1 HG02155.hp1 HG02257.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027 a0001c0002t0001g0038 a0001c0002t0001g0061 others(3): Show |
8 | 22 | 0.3636 | 16 | c.468 others(30): Show |
UBE2T | ENSG00000077152.12 | transcript | ENST00000646651.1 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
UBE2T_chr1_202326657_202346936 | 202346003 | T | TTATATAT others(9): Show |
upstream_gene_variant | MODIFIER | NA18988.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 a0001c0001t0001g0237 |
2 | 23 | 0.0870 | 16 | c.-41 others(27): Show |
UBE2T | ENSG00000077152.12 | transcript | ENST00000646651.1 | protein_coding | 4068 | chr1 | TogoVar | |||||||
UBE2U_chr1_64198623_64272368 | 64239092 | G | GGAAGAAA others(9): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 243 | 0.0041 | 16 | c.596 others(33): Show |
UBE2U | ENSG00000177414.14 | transcript | ENST00000371077.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UBE2U_chr1_64198623_64272368 | 64239175 | G | GAAGAAGA others(9): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0009 | a0001c0009t0006 | a0001c0009t0006g0169 | 1 | 322 | 0.0031 | 16 | c.596 others(33): Show |
UBE2U | ENSG00000177414.14 | transcript | ENST00000371077.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UBE2V1_chr20_50076124_50118150 | 50079375 | C | CTTTTTTT others(9): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG01884.hp1 HG02523.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0007 a0001c0001t0003g0054 a0001c0001t0003g0071 others(2): Show |
5 | 142 | 0.0352 | 16 | c.*33 others(27): Show |
UBE2V1 | ENSG00000244687.13 | transcript | ENST00000371674.8 | protein_coding | 1748 | chr20 | TogoVar | |||||||
UBE2W_chr8_73781219_73883862 | 73805454 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0024 a0001c0001t0015g0027 |
2 | 84 | 0.0238 | 16 | c.442 others(31): Show |
UBE2W | ENSG00000104343.21 | transcript | ENST00000602593.6 | protein_coding | 5/5 | chr8 | TogoVar | |||||||
UBE2W_chr8_73781219_73883862 | 73805472 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 27 | 0.0370 | 16 | c.442 others(31): Show |
UBE2W | ENSG00000104343.21 | transcript | ENST00000602593.6 | protein_coding | 5/5 | chr8 | TogoVar | |||||||
UBE2W_chr8_73781219_73883862 | 73832136 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02145.hp1 HG02258.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009a0001c0001t0017others(1): Show | a0001c0001t0005g0065 a0001c0001t0005g0070 a0001c0001t0005g0072 others(5): Show |
8 | 192 | 0.0417 | 16 | c.16- others(31): Show |
UBE2W | ENSG00000104343.21 | transcript | ENST00000602593.6 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
UBE2W_chr8_73781219_73883862 | 73866286 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0263 | 1 | 247 | 0.0040 | 16 | c.15+ others(33): Show |
UBE2W | ENSG00000104343.21 | transcript | ENST00000602593.6 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
UBE2W_chr8_73781219_73883862 | 73866288 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG03942.hp2 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0011 | a0001c0001t0010g0036 a0001c0001t0011g0240 |
2 | 189 | 0.0106 | 16 | c.15+ others(33): Show |
UBE2W | ENSG00000104343.21 | transcript | ENST00000602593.6 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
UBE3A_chr15_25328728_25444024 | 25332812 | G | GTTTTTTT others(9): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 HG02129.hp2 HG02280.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0014others(2): Show | a0001c0001t0002g0014 a0001c0001t0002g0090 a0001c0001t0002g0099 others(8): Show |
11 | 103 | 0.1068 | 16 | c.*63 others(27): Show |
UBE3A | ENSG00000114062.22 | transcript | ENST00000648336.2 | protein_coding | 915 | chr15 | TogoVar | |||||||
UBE3A_chr15_25328728_25444024 | 25345566 | T | TCACACAC others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01243.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0004a0001c0001t0007a0001c0001t0023others(5): Show | a0001c0001t0004g0013 a0001c0001t0004g0016 a0001c0001t0004g0017 others(23): Show |
26 | 168 | 0.1548 | 16 | c.235 others(35): Show |
UBE3A | ENSG00000114062.22 | transcript | ENST00000648336.2 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
UBE3A_chr15_25328728_25444024 | 25364036 | T | TAATAAAT others(9): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01516.hp1 HG02055.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(6): Show | a0001c0001t0003g0161 a0001c0001t0003g0256 a0001c0001t0004g0027 others(10): Show |
13 | 69 | 0.1884 | 16 | c.160 others(35): Show |
UBE3A | ENSG00000114062.22 | transcript | ENST00000648336.2 | protein_coding | 6/12 | chr15 | TogoVar | |||||||
UBE3A_chr15_25328728_25444024 | 25398767 | T | TTTTATAT others(9): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03098.hp1 |
a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0136 a0001c0002t0017g0139 |
2 | 278 | 0.0072 | 16 | c.62+ others(31): Show |
UBE3A | ENSG00000114062.22 | transcript | ENST00000648336.2 | protein_coding | 4/12 | chr15 | TogoVar | |||||||
UBE3A_chr15_25328728_25444024 | 25398771 | T | TTATATAT others(9): Show |
intron_variant | MODIFIER | HG04184.hp2 NA18975.hp2 NA19062.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0196 a0001c0001t0001g0238 a0001c0001t0001g0259 others(1): Show |
4 | 152 | 0.0263 | 16 | c.62+ others(31): Show |
UBE3A | ENSG00000114062.22 | transcript | ENST00000648336.2 | protein_coding | 4/12 | chr15 | TogoVar | |||||||
UBE3C_chr7_157133926_157274370 | 157204398 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 | 1 | 188 | 0.0053 | 16 | c.141 others(35): Show |
UBE3C | ENSG00000009335.19 | transcript | ENST00000348165.10 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UBE3C_chr7_157133926_157274370 | 157211167 | G | GGAGAGAG others(9): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG00621.hp1 others(38): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0056 a0001c0001t0001g0082 a0001c0001t0002g0016 others(38): Show |
41 | 163 | 0.2515 | 16 | c.180 others(35): Show |
UBE3C | ENSG00000009335.19 | transcript | ENST00000348165.10 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UBE3C_chr7_157133926_157274370 | 157211191 | A | AGAGAGAG others(9): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0014 | a0001c0014t0028 | a0001c0014t0028g0319 | 1 | 315 | 0.0032 | 16 | c.180 others(35): Show |
UBE3C | ENSG00000009335.19 | transcript | ENST00000348165.10 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UBE3D_chr6_82887390_83070841 | 82887394 | T | TGTTTTGT others(9): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00597.hp2 others(38): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0003t0005a0002c0002t0002others(1): Show | a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0025 others(38): Show |
41 | 184 | 0.2228 | 16 | c.*56 others(27): Show |
UBE3D | ENSG00000118420.17 | transcript | ENST00000369747.8 | protein_coding | 4995 | chr6 | TogoVar |