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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SBF2_chr11_9773668_10299219 | 9835631 | C | CAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0176 | 1 | 33 | 0.0303 | 35 | c.345 others(54): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 26/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10196866 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0220 | 1 | 12 | 0.0833 | 35 | c.56- others(50): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | |||||||
SCAMP1_chr5_78355617_78485739 | 78460800 | C | CTTTCTTT others(28): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0308 | 1 | 265 | 0.0038 | 35 | c.852 others(52): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 8/8 | chr5 | TogoVar | |||||||
SCAMP1_chr5_78355617_78485739 | 78460812 | C | CTTTCTTT others(28): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0292 | 1 | 234 | 0.0043 | 35 | c.852 others(52): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 8/8 | chr5 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76428894 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0307 | 1 | 308 | 0.0032 | 35 | c.331 others(54): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 26/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76488714 | C | CTTTTTTT others(28): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0194 | 1 | 8 | 0.1250 | 35 | c.295 others(56): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 24/31 | chr15 | TogoVar | |||||||
SCART1_chr10_133448945_133474760 | 133460496 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0003 | a0003c0007 | a0003c0007t0003 | a0003c0007t0003g0110 | 1 | 417 | 0.0024 | 35 | c.196 others(52): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SCART1_chr10_133448945_133474760 | 133470431 | T | TTTAGGTT others(28): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0021 | a0021c0055 | a0021c0055t0004 | a0021c0055t0004g0047 | 1 | 432 | 0.0023 | 35 | c.*24 others(46): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 672 | chr10 | TogoVar | |||||||
SCART1_chr10_133448945_133474760 | 133472640 | A | ATCTGGTC others(28): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG02451.hp2 HG02895.hp2 others(1): Show |
a0002 | a0002c0018 | a0002c0018t0004a0002c0018t0006 | a0002c0018t0004g0057 a0002c0018t0004g0059 a0002c0018t0006g0045 |
4 | 432 | 0.0093 | 35 | c.*46 others(46): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 2881 | chr10 | TogoVar | |||||||
SCART1_chr10_133448945_133474760 | 133473039 | T | TGTTGAGT others(28): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 431 | 0.0023 | 35 | c.*50 others(46): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 3280 | chr10 | TogoVar | |||||||
SCEL_chr13_77530706_77650263 | 77633442 | C | CAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0273 | 1 | 102 | 0.0098 | 35 | c.169 others(52): Show |
SCEL | ENSG00000136155.17 | transcript | ENST00000349847.4 | protein_coding | 28/32 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SCFD2_chr4_52867982_53371061 | 53110041 | G | GGAACAGA others(28): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01106.hp1 HG01169.hp1 others(5): Show |
a0001a0005 | a0001c0005a0001c0007a0005c0011others(1): Show | a0001c0005t0001a0001c0005t0003a0001c0007t0001others(3): Show | a0001c0005t0001g0024 a0001c0005t0001g0037 a0001c0005t0003g0046 others(5): Show |
8 | 49 | 0.1633 | 35 | c.156 others(56): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
SCGB1C2_chr17_132569_144067 | 141059 | T | TGGTGAGG others(28): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0002 | 1 | 163 | 0.0061 | 35 | c.*21 others(46): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 1993 | chr17 | TogoVar | |||||||
SCHIP1_chr3_159268244_159902359 | 159843001 | C | CTTTTTTT others(28): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 5 | 0.2000 | 35 | c.760 others(54): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCIN_chr7_12565720_12665182 | 12578909 | G | GTTTTTTT others(28): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02080.hp1 HG02145.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0010a0002c0002t0012others(7): Show | a0001c0001t0009g0031 a0002c0002t0010g0317 a0002c0002t0012g0278 others(7): Show |
10 | 175 | 0.0571 | 35 | c.354 others(50): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SCML4_chr6_107697154_107829313 | 107778222 | A | AAAAAAAA others(28): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0004 | a0002c0004t0014 | a0002c0004t0014g0017 | 1 | 174 | 0.0057 | 35 | c.-59 others(52): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166414152 | T | TATATATA others(28): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01168.hp1 others(5): Show |
a0002a0010a0013 | a0002c0002a0010c0013a0013c0019 | a0002c0002t0001a0010c0013t0001a0010c0013t0003others(2): Show | a0002c0002t0001g0001 a0002c0002t0001g0175 a0010c0013t0001g0023 others(5): Show |
8 | 383 | 0.0209 | 35 | c.341 others(54): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar | |||||||
SCN8A_chr12_51586233_51817864 | 51677056 | G | GTTTTATT others(28): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0006 | 1 | 73 | 0.0137 | 35 | c.277 others(52): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCNN1A_chr12_6341847_6380563 | 6343645 | C | CTGGGCTG others(28): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(88): Show |
a0001a0003a0008others(2): Show | a0001c0001a0001c0006a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(6): Show | a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0028 others(81): Show |
91 | 452 | 0.2013 | 35 | c.*42 others(46): Show |
SCNN1A | ENSG00000111319.13 | transcript | ENST00000228916.7 | protein_coding | 3201 | chr12 | TogoVar | |||||||
SCNN1B_chr16_23297302_23386294 | 23343486 | G | GGAAGGAA others(28): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02965.hp1 HG02976.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0297 others(2): Show |
5 | 294 | 0.0170 | 35 | c.-8- others(50): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1B_chr16_23297302_23386294 | 23365620 | A | AGAAAGAA others(28): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0187 | 1 | 179 | 0.0056 | 35 | c.777 others(52): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 4/12 | chr16 | TogoVar | |||||||
SCNN1B_chr16_23297302_23386294 | 23365620 | A | AGAAAGAG others(28): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0174 | 1 | 179 | 0.0056 | 35 | c.777 others(52): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 4/12 | chr16 | TogoVar | |||||||
SCO2_chr22_50518568_50530598 | 50524455 | A | AAGGGAAG others(28): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0028 | 1 | 408 | 0.0025 | 35 | c.-13 others(48): Show |
SCO2 | ENSG00000284194.3 | transcript | ENST00000395693.8 | protein_coding | 1/1 | chr22 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9054725 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0009 | a0009c0017 | a0009c0017t0004 | a0009c0017t0004g0243 | 1 | 121 | 0.0083 | 35 | c.120 others(52): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 10/22 | chr11 | TogoVar | |||||||
SCX_chr8_144261453_144273481 | 144262774 | A | ACCCCCAC others(28): Show |
upstream_gene_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 308 | 0.0032 | 35 | c.-38 others(46): Show |
SCX | ENSG00000260428.3 | transcript | ENST00000567180.3 | protein_coding | 3678 | chr8 | TogoVar | |||||||
SCX_chr8_144261453_144273481 | 144262803 | G | GCCCCCCC others(28): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG01256.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 237 | 0.0084 | 35 | c.-38 others(46): Show |
SCX | ENSG00000260428.3 | transcript | ENST00000567180.3 | protein_coding | 3649 | chr8 | TogoVar | |||||||
SCX_chr8_144261453_144273481 | 144262803 | G | GCCCCCCC others(28): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00597.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0003g0002 |
20 | 255 | 0.0784 | 35 | c.-38 others(46): Show |
SCX | ENSG00000260428.3 | transcript | ENST00000567180.3 | protein_coding | 3649 | chr8 | TogoVar | |||||||
SCYGR1_chr2_227382683_227392949 | 227389878 | T | TTTTTCTT others(28): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02647.hp2 HG02809.hp1 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0000 | 3 | 239 | 0.0126 | 35 | c.-19 others(46): Show |
SCYGR1 | ENSG00000284629.1 | transcript | ENST00000641359.1 | protein_coding | 1930 | chr2 | TogoVar | |||||||
SDC2_chr8_96488813_96616790 | 96565084 | A | ATTTTTTT others(28): Show |
intron_variant | MODIFIER | HG01358.hp1 HG03927.hp1 NA18977.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0029 a0001c0001t0001g0069 a0001c0001t0001g0291 others(2): Show |
5 | 78 | 0.0641 | 35 | c.61- others(52): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDCCAG8_chr1_243251041_243505091 | 243484587 | T | TCATCTGC others(28): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 188 | 0.0053 | 35 | c.198 others(54): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDF2_chr17_28643346_28666906 | 28662302 | T | TGGGGGGG others(28): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0186 | 1 | 396 | 0.0025 | 35 | c.-42 others(44): Show |
SDF2 | ENSG00000132581.10 | transcript | ENST00000247020.9 | protein_coding | 397 | chr17 | TogoVar | |||||||
SDF2_chr17_28643346_28666906 | 28663828 | A | ATTTTTTT others(28): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG01099.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0032 others(8): Show |
11 | 13 | 0.8462 | 35 | c.-19 others(46): Show |
SDF2 | ENSG00000132581.10 | transcript | ENST00000247020.9 | protein_coding | 1923 | chr17 | TogoVar | |||||||
SDF4_chr1_1211931_1237001 | 1212605 | C | CAGCCCCT others(28): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02280.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0004a0002c0005 | a0001c0001t0002a0001c0001t0007a0001c0001t0018others(2): Show | a0001c0001t0002g0026 a0001c0001t0002g0058 a0001c0001t0007g0212 others(4): Show |
8 | 341 | 0.0235 | 35 | c.*49 others(46): Show |
SDF4 | ENSG00000078808.20 | transcript | ENST00000360001.12 | protein_coding | 4325 | chr1 | TogoVar | |||||||
SDHAF3_chr7_97112698_97186763 | 97183901 | C | CTTTTTTT others(28): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 HG02055.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0037 a0001c0001t0002g0119 |
2 | 37 | 0.0541 | 35 | c.*26 others(46): Show |
SDHAF3 | ENSG00000196636.8 | transcript | ENST00000432641.3 | protein_coding | 2139 | chr7 | TogoVar | |||||||
SDHC_chr1_161309381_161368206 | 161309552 | A | ATATATAT others(28): Show |
upstream_gene_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 62 | 0.0161 | 35 | c.-48 others(46): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 4828 | chr1 | TogoVar | |||||||
SDHC_chr1_161309381_161368206 | 161309552 | A | ATATATAT others(28): Show |
upstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 62 | 0.0161 | 35 | c.-48 others(46): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 4828 | chr1 | TogoVar | |||||||
SDHC_chr1_161309381_161368206 | 161309552 | A | ATATATAT others(28): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 | 1 | 62 | 0.0161 | 35 | c.-48 others(46): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 4828 | chr1 | TogoVar | |||||||
SDHC_chr1_161309381_161368206 | 161309552 | A | ATATATAT others(28): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 HG02717.hp2 HG03098.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 a0001c0001t0005g0007 a0001c0001t0005g0042 others(1): Show |
5 | 66 | 0.0758 | 35 | c.-48 others(46): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 4828 | chr1 | TogoVar | |||||||
SDHC_chr1_161309381_161368206 | 161339662 | G | GTTTTTTT others(28): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01496.hp2 HG03453.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0109 a0001c0001t0001g0134 others(2): Show |
5 | 60 | 0.0833 | 35 | c.180 others(50): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73355174 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0003 | a0001c0003t0020 | a0001c0003t0020g0156 | 1 | 52 | 0.0192 | 35 | c.559 others(54): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 40/44 | chr17 | TogoVar | |||||||
SEC22B_chr1_120145898_120181520 | 120177146 | G | GAACGACC others(28): Show |
upstream_gene_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0053 | 1 | 378 | 0.0026 | 35 | c.-76 others(44): Show |
SEC22B | ENSG00000265808.4 | transcript | ENST00000578049.4 | protein_coding | 627 | chr1 | TogoVar | |||||||
SEC63_chr6_107862756_107963208 | 107863571 | C | CGCTGCGC others(28): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 63 | 0.0159 | 35 | c.*81 others(46): Show |
SEC63 | ENSG00000025796.14 | transcript | ENST00000369002.9 | protein_coding | 4184 | chr6 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13939040 | G | GGTTTTTT others(28): Show |
intron_variant | MODIFIER | HG01993.hp2 HG03491.hp1 |
a0002a0003 | a0002c0002a0003c0005 | a0002c0002t0004a0003c0005t0002 | a0002c0002t0004g0015 a0003c0005t0002g0036 |
2 | 12 | 0.1667 | 35 | c.115 others(52): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SELENBP1_chr1_151359304_151377705 | 151362092 | A | AGAGGAAG others(28): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 436 | 0.0023 | 35 | c.*24 others(46): Show |
SELENBP1 | ENSG00000143416.21 | transcript | ENST00000368868.10 | protein_coding | 2211 | chr1 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83383210 | T | TAGATTTG others(28): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG03225.hp1 |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0027a0003c0009t0032a0003c0009t0037 | a0001c0001t0027g0007 a0003c0009t0032g0013 a0003c0009t0037g0018 |
3 | 65 | 0.0462 | 35 | c.187 others(54): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 16/16 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83383210 | T | TAGATTTG others(28): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02145.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0004a0001c0001t0008a0001c0001t0017others(3): Show | a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 others(8): Show |
11 | 73 | 0.1507 | 35 | c.187 others(54): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 16/16 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83389635 | C | CATACACG others(28): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02300.hp1 HG03491.hp2 others(6): Show |
a0002 | a0002c0004 | a0002c0004t0002a0002c0004t0003a0002c0004t0009others(2): Show | a0002c0004t0002g0054 a0002c0004t0002g0110 a0002c0004t0002g0111 others(6): Show |
9 | 224 | 0.0402 | 35 | c.166 others(54): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 14/16 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83454272 | A | AAAAATAT others(28): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0213 | 1 | 187 | 0.0053 | 35 | c.456 others(54): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 4/16 | chr7 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9353072 | A | AGGAAAGG others(28): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 131 | 0.0076 | 35 | c.125 others(54): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 3/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9353100 | A | AGGAAGGA others(28): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0005 | a0001c0005t0042 | a0001c0005t0042g0070 | 1 | 100 | 0.0100 | 35 | c.125 others(54): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 3/22 | chr5 | TogoVar |