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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
STX8_chr17_9245471_9580820 | 9440524 | G | GATTTT | intron_variant | MODIFIER | HG01167.hp1 HG02148.hp1 HG02451.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(4): Show | a0001c0001t0001g0122 a0001c0001t0002g0085 a0001c0001t0002g0171 others(8): Show |
11 | 157 | 0.0701 | 5 | c.541 others(24): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9460688 | A | AAAAAC | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0003t0002others(1): Show | a0001c0001t0002g0093 a0001c0002t0002g0063 a0001c0003t0002g0043 others(2): Show |
5 | 184 | 0.0272 | 5 | c.541 others(24): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9543292 | G | GTACTT | intron_variant | MODIFIER | HG02109.hp1 HG02965.hp2 HG03139.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0003t0002 | a0001c0002t0001g0029 a0001c0002t0002g0024 a0001c0003t0002g0069 |
3 | 186 | 0.0161 | 5 | c.323 others(22): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 4/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9546590 | G | GTTTTT | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 HG02735.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0002g0087 others(1): Show |
4 | 119 | 0.0336 | 5 | c.213 others(22): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 3/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9546591 | G | GTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG01346.hp1 HG01891.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0115 others(6): Show |
9 | 17 | 0.5294 | 5 | c.213 others(22): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 3/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9547642 | A | AAAAAG | intron_variant | MODIFIER | HG02647.hp2 HG03139.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0151 a0001c0002t0001g0008 a0001c0003t0001g0042 others(2): Show |
5 | 92 | 0.0543 | 5 | c.213 others(22): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 3/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9559760 | A | ATTTTT | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0003t0001 | a0001c0002t0001g0010 a0001c0002t0002g0036 a0001c0003t0001g0031 others(2): Show |
5 | 11 | 0.4545 | 5 | c.118 others(22): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 2/7 | chr17 | TogoVar | |||||||
STXBP1_chr9_127607277_127697699 | 127609679 | T | TTTTTG | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00621.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0018 others(19): Show |
24 | 297 | 0.0808 | 5 | c.-27 others(16): Show |
STXBP1 | ENSG00000136854.25 | transcript | ENST00000373299.5 | protein_coding | 2597 | chr9 | TogoVar | |||||||
STXBP3_chr1_108741674_108814523 | 108765591 | T | TTTTTC | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(88): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0001g0161 a0001c0002t0001g0003 a0001c0002t0001g0005 others(79): Show |
91 | 244 | 0.3730 | 5 | c.438 others(22): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
STXBP4_chr17_54963765_55178632 | 54967996 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG00639.hp1 others(85): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0061others(30): Show | a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 others(84): Show |
88 | 93 | 0.9462 | 5 | c.-97 others(14): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 768 | chr17 | TogoVar | |||||||
STXBP4_chr17_54963765_55178632 | 54983607 | A | ATTTCT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(281): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0009a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(115): Show | a0001c0001t0001g0006 a0001c0001t0001g0155 a0001c0001t0001g0162 others(277): Show |
284 | 376 | 0.7553 | 5 | c.-15 others(24): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
STXBP4_chr17_54963765_55178632 | 55011503 | T | TTTCTC | intron_variant | MODIFIER | HG00673.hp2 HG01433.hp1 NA18963.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0058a0001c0001t0098 | a0001c0001t0034g0254 a0001c0001t0034g0256 a0001c0001t0058g0255 others(1): Show |
4 | 376 | 0.0106 | 5 | c.666 others(22): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
STXBP4_chr17_54963765_55178632 | 55011508 | C | CTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00621.hp1 others(67): Show |
a0001a0005 | a0001c0001a0001c0009a0001c0012others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0002g0344 a0001c0001t0003g0215 a0001c0001t0003g0274 others(66): Show |
70 | 103 | 0.6796 | 5 | c.666 others(22): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
STXBP4_chr17_54963765_55178632 | 55066195 | G | GTTGTT | intron_variant | MODIFIER | HG01261.hp2 HG01346.hp2 HG01943.hp1 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(18): Show | a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0196 others(30): Show |
33 | 263 | 0.1255 | 5 | c.101 others(24): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
STXBP4_chr17_54963765_55178632 | 55125479 | C | CAAAAA | intron_variant | MODIFIER | HG00673.hp1 HG01109.hp2 HG01175.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(6): Show | a0001c0001t0001g0243 a0001c0001t0004g0248 a0001c0001t0004g0252 others(8): Show |
11 | 128 | 0.0859 | 5 | c.149 others(26): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
STXBP4_chr17_54963765_55178632 | 55164438 | C | CTTTTT | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00642.hp1 others(67): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0014others(27): Show | a0001c0001t0003g0215 a0001c0001t0003g0274 a0001c0001t0003g0280 others(66): Show |
70 | 200 | 0.3500 | 5 | c.*45 others(16): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 18/18 | 4551 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
STXBP5L_chr3_120903205_121429761 | 120930142 | T | TTTTGA | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00735.hp1 others(36): Show |
a0001a0004a0007 | a0001c0001a0001c0008a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0003g0251 others(36): Show |
39 | 288 | 0.1354 | 5 | c.189 others(24): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121354508 | C | CTTTTT | intron_variant | MODIFIER | HG01069.hp2 HG01099.hp2 HG01106.hp2 others(3): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0210 a0001c0001t0004g0234 a0001c0001t0006g0223 others(3): Show |
6 | 141 | 0.0426 | 5 | c.217 others(26): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147372406 | C | CTTTTT | intron_variant | MODIFIER | HG01358.hp1 HG02148.hp2 HG02976.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0275 others(1): Show |
4 | 22 | 0.1818 | 5 | c.308 others(24): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | TogoVar | |||||||
STXBP5_chr6_147199417_147395473 | 147383540 | A | ACTGGC | intron_variant | MODIFIER | HG02258.hp2 HG02922.hp1 HG02965.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0142 a0002c0002t0008g0143 a0002c0002t0008g0173 others(2): Show |
5 | 348 | 0.0144 | 5 | c.341 others(22): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP6_chr14_24804454_25055147 | 24836606 | C | CAAAAA | intron_variant | MODIFIER | HG01168.hp2 HG01192.hp1 HG01981.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0035others(4): Show | a0001c0001t0003g0080 a0001c0001t0003g0092 a0001c0001t0003g0133 others(7): Show |
10 | 59 | 0.1695 | 5 | c.452 others(24): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 4/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24882378 | C | CAAAAA | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG02451.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0018others(3): Show | a0001c0001t0006g0004 a0001c0001t0007g0064 a0001c0001t0007g0139 others(4): Show |
7 | 15 | 0.4667 | 5 | c.155 others(24): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24976852 | C | CTTTTT | intron_variant | MODIFIER | HG00741.hp2 HG01071.hp1 HG01515.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0003g0019 others(2): Show |
5 | 56 | 0.0893 | 5 | c.-32 others(22): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24990659 | C | CAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01069.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0020 a0001c0001t0002g0022 a0001c0001t0002g0025 others(21): Show |
24 | 145 | 0.1655 | 5 | c.-32 others(24): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24996864 | C | CAAAAA | intron_variant | MODIFIER | HG01175.hp2 HG02818.hp2 HG03453.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0044a0001c0001t0114others(2): Show | a0001c0001t0008g0229 a0001c0001t0044g0224 a0001c0001t0114g0232 others(2): Show |
5 | 87 | 0.0575 | 5 | c.-32 others(24): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 25013503 | C | CACACA | intron_variant | MODIFIER | HG02572.hp1 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0056a0001c0001t0084 | a0001c0001t0056g0011 a0001c0001t0084g0183 |
2 | 239 | 0.0084 | 5 | c.-33 others(24): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 25021944 | C | CAAGGG | intron_variant | MODIFIER | HG03927.hp2 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0070 | a0001c0001t0024g0237 a0001c0001t0070g0138 |
2 | 240 | 0.0083 | 5 | c.-33 others(24): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 25044170 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00639.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0012a0001c0001t0023others(13): Show | a0001c0001t0008g0210 a0001c0001t0008g0216 a0001c0001t0008g0217 others(19): Show |
22 | 146 | 0.1507 | 5 | c.-33 others(22): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
STYK1_chr12_10613923_10679052 | 10650119 | C | CAAAAA | intron_variant | MODIFIER | HG01106.hp1 HG01175.hp1 HG01192.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0003a0002c0002t0001a0002c0002t0007others(1): Show | a0001c0001t0003g0322 a0002c0002t0001g0099 a0002c0002t0001g0273 others(6): Show |
9 | 62 | 0.1452 | 5 | c.-19 others(26): Show |
STYK1 | ENSG00000060140.9 | transcript | ENST00000075503.8 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
STYK1_chr12_10613923_10679052 | 10678257 | T | TAAATA | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG02129.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0091 a0001c0001t0001g0092 others(13): Show |
16 | 357 | 0.0448 | 5 | c.-44 others(16): Show |
STYK1 | ENSG00000060140.9 | transcript | ENST00000075503.8 | protein_coding | 4206 | chr12 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 76024948 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG01106.hp1 HG01192.hp2 others(38): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(2): Show | a0001c0001t0001g0170 a0001c0001t0001g0334 a0001c0001t0001g0335 others(38): Show |
41 | 131 | 0.3130 | 5 | c.166 others(22): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 3/8 | chr7 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 76026192 | C | CAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG01168.hp2 HG02109.hp2 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0034 a0001c0002t0002g0061 a0001c0002t0002g0062 others(10): Show |
13 | 20 | 0.6500 | 5 | c.165 others(22): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 3/8 | chr7 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 76038422 | A | ATTCTT | intron_variant | MODIFIER | HG01175.hp1 HG01256.hp1 HG03579.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0340 a0001c0002t0002g0040 a0001c0002t0002g0057 others(6): Show |
9 | 114 | 0.0789 | 5 | c.-4- others(20): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 76042390 | C | CTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG01257.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0002 a0001c0001t0001g0173 a0001c0001t0001g0231 others(25): Show |
29 | 50 | 0.5800 | 5 | c.-5+ others(20): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 76048983 | G | GGGGGT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01975.hp2 HG02027.hp2 others(36): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0003t0001a0001c0003t0005others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0211 a0001c0001t0001g0220 others(36): Show |
39 | 354 | 0.1102 | 5 | c.-13 others(16): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 984 | chr7 | TogoVar | |||||||
STYX_chr14_52725166_52779989 | 52777396 | A | AAAAGT | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02280.hp2 HG02630.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0030a0001c0001t0032others(1): Show | a0001c0001t0010g0043 a0001c0001t0010g0044 a0001c0001t0010g0045 others(4): Show |
7 | 368 | 0.0190 | 5 | c.*62 others(16): Show |
STYX | ENSG00000198252.12 | transcript | ENST00000354586.5 | protein_coding | 2408 | chr14 | TogoVar | |||||||
SUCLA2_chr13_47937656_48006273 | 47945422 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(95): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(81): Show |
98 | 131 | 0.7481 | 5 | c.131 others(24): Show |
SUCLA2 | ENSG00000136143.16 | transcript | ENST00000646932.1 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
SUCLA2_chr13_47937656_48006273 | 47983387 | C | CAAATT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(208): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0010a0005c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(186): Show |
211 | 356 | 0.5927 | 5 | c.534 others(22): Show |
SUCLA2 | ENSG00000136143.16 | transcript | ENST00000646932.1 | protein_coding | 4/10 | chr13 | TogoVar | |||||||
SUCLG1_chr2_84418528_84464280 | 84451276 | C | CTCATA | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp1 HG01106.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0084 a0001c0001t0002g0006 a0001c0001t0002g0011 others(19): Show |
29 | 244 | 0.1189 | 5 | c.98- others(20): Show |
SUCLG1 | ENSG00000163541.12 | transcript | ENST00000393868.7 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
SUCLG2_chr3_67369719_67659612 | 67419427 | C | CTCTGA | intron_variant | MODIFIER | HG02559.hp2 HG02622.hp1 HG02809.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(1): Show | a0001c0001t0001g0068 a0001c0001t0003g0070 a0001c0001t0003g0078 others(4): Show |
7 | 278 | 0.0252 | 5 | c.106 others(26): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 9/10 | chr3 | TogoVar | |||||||
SUCLG2_chr3_67369719_67659612 | 67422473 | C | CAAAAA | intron_variant | MODIFIER | HG02109.hp1 HG02886.hp1 HG02886.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0017 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0216 a0001c0001t0002g0103 a0001c0001t0002g0104 others(5): Show |
8 | 42 | 0.1905 | 5 | c.106 others(26): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 9/10 | chr3 | TogoVar | |||||||
SUCLG2_chr3_67369719_67659612 | 67446354 | T | TAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG01981.hp2 HG01993.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0124 a0001c0001t0001g0143 a0001c0001t0001g0152 others(13): Show |
16 | 188 | 0.0851 | 5 | c.106 others(26): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 9/10 | chr3 | TogoVar | |||||||
SUCLG2_chr3_67369719_67659612 | 67454414 | A | AAATAG | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG01993.hp2 others(20): Show |
a0001a0003a0010 | a0001c0001a0001c0004a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0075 a0001c0001t0001g0101 a0001c0001t0001g0135 others(20): Show |
23 | 278 | 0.0827 | 5 | c.106 others(26): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 9/10 | chr3 | TogoVar | |||||||
SUCLG2_chr3_67369719_67659612 | 67457684 | C | CTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01258.hp2 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0045 a0001c0001t0001g0221 a0001c0001t0002g0209 others(9): Show |
12 | 86 | 0.1395 | 5 | c.106 others(26): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 9/10 | chr3 | TogoVar | |||||||
SUCLG2_chr3_67369719_67659612 | 67535570 | T | TTAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG01993.hp2 others(13): Show |
a0001a0003a0010 | a0001c0001a0003c0003a0010c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0075 a0001c0001t0001g0101 a0001c0001t0001g0238 others(13): Show |
16 | 278 | 0.0576 | 5 | c.227 others(22): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SUCLG2_chr3_67369719_67659612 | 67620584 | C | CAAAAA | intron_variant | MODIFIER | HG01099.hp2 HG01952.hp2 HG02129.hp2 others(9): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0113 others(9): Show |
12 | 136 | 0.0882 | 5 | c.85- others(22): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 1/10 | chr3 | TogoVar | |||||||
SUCO_chr1_172528150_172616833 | 172545917 | C | CTTCCT | intron_variant | MODIFIER | HG02451.hp2 NA19000.hp2 NA19079.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0002t0002 | a0001c0001t0002g0104 a0001c0001t0008g0114 a0001c0002t0002g0236 others(1): Show |
4 | 335 | 0.0119 | 5 | c.63- others(20): Show |
SUCO | ENSG00000094975.15 | transcript | ENST00000263688.4 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SUCO_chr1_172528150_172616833 | 172612704 | A | ACGCAC | downstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02055.hp1 others(10): Show |
a0001a0007 | a0001c0001a0007c0016 | a0001c0001t0004a0007c0016t0004 | a0001c0001t0004g0029 a0001c0001t0004g0044 a0001c0001t0004g0060 others(9): Show |
13 | 332 | 0.0392 | 5 | c.*24 others(16): Show |
SUCO | ENSG00000094975.15 | transcript | ENST00000263688.4 | protein_coding | 872 | chr1 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102568874 | C | CAAAAA | intron_variant | MODIFIER | HG01074.hp2 HG01258.hp1 HG01346.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0197 others(8): Show |
11 | 189 | 0.0582 | 5 | c.454 others(24): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102580029 | A | ACCCCC | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG01074.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0019 | a0001c0001t0001g0185 a0001c0001t0001g0193 a0001c0001t0001g0196 others(15): Show |
18 | 169 | 0.1065 | 5 | c.455 others(24): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |