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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEMA5A_chr5_9030033_9551075 | 9123258 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02647.hp2 HG03225.hp1 others(2): Show |
a0001 | a0001c0006 | a0001c0006t0001a0001c0006t0007a0001c0006t0014others(2): Show | a0001c0006t0001g0024 a0001c0006t0007g0088 a0001c0006t0014g0060 others(2): Show |
5 | 134 | 0.0373 | 11 | c.160 others(28): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 13/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9154062 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0030 | 1 | 134 | 0.0075 | 11 | c.148 others(28): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 12/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9154062 | A | AAAAAAAT others(4): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03453.hp2 NA18964.hp2 |
a0001 | a0001c0004a0001c0005a0001c0009 | a0001c0004t0005a0001c0005t0007a0001c0009t0002 | a0001c0004t0005g0050 a0001c0005t0007g0086 a0001c0009t0002g0113 |
3 | 134 | 0.0224 | 11 | c.148 others(28): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 12/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9381942 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0120 | 1 | 134 | 0.0075 | 11 | c.-77 others(28): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 2/22 | chr5 | TogoVar | |||||||
SEMA5B_chr3_122904082_123032763 | 122935686 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG02280.hp2 others(4): Show |
a0001a0002a0009 | a0001c0004a0001c0005a0002c0002others(1): Show | a0001c0004t0006a0001c0005t0024a0002c0002t0005others(2): Show | a0001c0004t0006g0132 a0001c0005t0024g0136 a0002c0002t0005g0095 others(4): Show |
7 | 290 | 0.0241 | 11 | c.474 others(28): Show |
SEMA5B | ENSG00000082684.16 | transcript | ENST00000357599.8 | protein_coding | 5/22 | chr3 | TogoVar | |||||||
SEMA6A_chr5_116438555_116579823 | 116448196 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02622.hp1 NA19064.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0074a0001c0003t0049 | a0001c0001t0074g0227 a0001c0003t0049g0017 |
2 | 304 | 0.0066 | 11 | c.189 others(28): Show |
SEMA6A | ENSG00000092421.17 | transcript | ENST00000343348.11 | protein_coding | 18/18 | chr5 | TogoVar | |||||||
SEMA6A_chr5_116438555_116579823 | 116536866 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0255 | 1 | 304 | 0.0033 | 11 | c.-38 others(30): Show |
SEMA6A | ENSG00000092421.17 | transcript | ENST00000343348.11 | protein_coding | 1/18 | chr5 | TogoVar | |||||||
SEMA6A_chr5_116438555_116579823 | 116579525 | C | CTTTCTTT others(4): Show |
upstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 304 | 0.0033 | 11 | c.-53 others(22): Show |
SEMA6A | ENSG00000092421.17 | transcript | ENST00000343348.11 | protein_coding | 4703 | chr5 | TogoVar | |||||||
SENP2_chr3_185581295_185638551 | 185587570 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0217 | 1 | 360 | 0.0028 | 11 | c.101 others(28): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP2_chr3_185581295_185638551 | 185587732 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01074.hp1 HG01168.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0048others(3): Show | a0002c0002t0001g0258 a0002c0002t0001g0278 a0002c0002t0002g0217 others(7): Show |
10 | 360 | 0.0278 | 11 | c.101 others(28): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP2_chr3_185581295_185638551 | 185588050 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0002 | a0002c0002t0078 | a0002c0002t0078g0300 | 1 | 360 | 0.0028 | 11 | c.101 others(28): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP2_chr3_185581295_185638551 | 185592011 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(58): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0008 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(41): Show | a0001c0001t0003g0082 a0001c0001t0003g0087 a0001c0001t0003g0343 others(58): Show |
61 | 360 | 0.1694 | 11 | c.157 others(28): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP2_chr3_185581295_185638551 | 185631429 | C | CCCCCTTC others(4): Show |
3_prime_UTR_variant | MODIFIER | NA18977.hp1 NA19004.hp2 |
a0002 | a0002c0002 | a0002c0002t0095a0002c0002t0096 | a0002c0002t0095g0293 a0002c0002t0096g0289 |
2 | 360 | 0.0056 | 11 | c.*15 others(22): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 17/17 | 1590 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SENP2_chr3_185581295_185638551 | 185631430 | C | CCGCCTTC others(4): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00597.hp2 others(62): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0123a0002c0002t0001a0002c0002t0002others(28): Show | a0001c0001t0123g0022 a0002c0002t0001g0220 a0002c0002t0001g0222 others(62): Show |
65 | 360 | 0.1806 | 11 | c.*15 others(22): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 17/17 | 1588 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SENP2_chr3_185581295_185638551 | 185631465 | C | CCCCTCCC others(4): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(179): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(115): Show | a0001c0001t0003g0077 a0001c0001t0003g0080 a0001c0001t0003g0082 others(179): Show |
182 | 360 | 0.5056 | 11 | c.*16 others(22): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 17/17 | 1629 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SENP2_chr3_185581295_185638551 | 185631576 | T | TCTCCCCT others(4): Show |
3_prime_UTR_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0141 | a0001c0001t0141g0132 | 1 | 360 | 0.0028 | 11 | c.*17 others(22): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 17/17 | 1734 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SENP5_chr3_196862920_196939714 | 196933013 | G | GTTTTTTT others(4): Show |
3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG01070.hp1 HG01071.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0079 | a0001c0001t0014g0259 a0001c0001t0014g0264 a0001c0001t0014g0267 others(3): Show |
6 | 306 | 0.0196 | 11 | c.*20 others(22): Show |
SENP5 | ENSG00000119231.11 | transcript | ENST00000323460.10 | protein_coding | 10/10 | 2097 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SENP6_chr6_75596880_75723281 | 75652683 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0121 | 1 | 362 | 0.0028 | 11 | c.550 others(28): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SENP6_chr6_75596880_75723281 | 75652696 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18941.hp1 NA18977.hp1 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0320 a0001c0001t0004g0336 a0001c0001t0007g0313 |
3 | 362 | 0.0083 | 11 | c.550 others(28): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SENP6_chr6_75596880_75723281 | 75719958 | A | ATTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG02717.hp1 HG02895.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0174 a0001c0004t0003g0175 a0001c0004t0003g0176 others(1): Show |
4 | 362 | 0.0111 | 11 | c.*43 others(22): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 1678 | chr6 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101479892 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0367 | 1 | 370 | 0.0027 | 11 | c.186 others(30): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 3/23 | chr3 | TogoVar | |||||||
SEPTIN10_chr2_109537799_109618966 | 109610095 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0220 | 1 | 404 | 0.0025 | 11 | c.30+ others(26): Show |
SEPTIN10 | ENSG00000186522.15 | transcript | ENST00000397712.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
SEPTIN12_chr16_4772606_4793345 | 4781943 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG00741.hp2 others(12): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(7): Show |
15 | 422 | 0.0356 | 11 | c.726 others(28): Show |
SEPTIN12 | ENSG00000140623.14 | transcript | ENST00000268231.13 | protein_coding | 7/9 | chr16 | TogoVar | |||||||
SEPTIN14_chr7_55788540_55867752 | 55846064 | A | AAGTATAT others(4): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0032 | a0001c0001t0015g0260 a0001c0001t0032g0356 |
2 | 390 | 0.0051 | 11 | c.175 others(26): Show |
SEPTIN14 | ENSG00000154997.9 | transcript | ENST00000388975.4 | protein_coding | 3/9 | chr7 | TogoVar | |||||||
SEPTIN1_chr16_30373135_30387561 | 30379640 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 310 | 0.0032 | 11 | c.676 others(26): Show |
SEPTIN1 | ENSG00000180096.13 | transcript | ENST00000321367.8 | protein_coding | 7/10 | chr16 | TogoVar | |||||||
SEPTIN5_chr22_19709503_19728319 | 19712694 | C | CTTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 384 | 0.0026 | 11 | c.-18 others(22): Show |
SEPTIN5 | ENSG00000184702.20 | transcript | ENST00000455784.7 | protein_coding | 1808 | chr22 | TogoVar | |||||||
SEPTIN5_chr22_19709503_19728319 | 19725843 | T | TCGGGGCG others(4): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(315): Show |
a0001a0003a0004 | a0001c0001a0001c0004a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(56): Show |
318 | 384 | 0.8281 | 11 | c.*33 others(22): Show |
SEPTIN5 | ENSG00000184702.20 | transcript | ENST00000455784.7 | protein_coding | 2525 | chr22 | TogoVar | |||||||
SEPTIN6_chrX_119611945_119698168 | 119647483 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01109.hp1 HG01192.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0038 a0001c0001t0001g0185 a0001c0001t0001g0225 others(41): Show |
44 | 252 | 0.1746 | 11 | c.690 others(28): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 5/10 | chrX | TogoVar | |||||||
SEPTIN6_chrX_119611945_119698168 | 119696639 | G | GGGCCCCA others(4): Show |
upstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0252 | 1 | 252 | 0.0040 | 11 | c.-35 others(22): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 3472 | chrX | TogoVar | |||||||
SEPTIN7_chr7_35796057_35912110 | 35829128 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02293.hp1 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0115 |
3 | 346 | 0.0087 | 11 | c.62- others(26): Show |
SEPTIN7 | ENSG00000122545.22 | transcript | ENST00000350320.11 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77346278 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0083 | 1 | 150 | 0.0067 | 11 | c.76+ others(28): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77355981 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01168.hp1 HG01169.hp1 others(33): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0051 others(33): Show |
36 | 150 | 0.2400 | 11 | c.77- others(28): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77346278 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02257.hp2 NA18944.hp1 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0039 | a0001c0001t0019g0030 a0001c0001t0039g0051 |
2 | 158 | 0.0127 | 11 | c.22+ others(28): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77355981 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01109.hp2 HG01168.hp1 others(35): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0042 others(35): Show |
38 | 158 | 0.2405 | 11 | c.22+ others(28): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SERGEF_chr11_17783048_18018047 | 17830645 | G | GAGAGAGA others(4): Show |
intron_variant | MODIFIER | HG01928.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0029 a0001c0002t0002g0181 |
2 | 226 | 0.0089 | 11 | c.104 others(32): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 10/10 | chr11 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 17896623 | G | GGGGAAGG others(4): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG02572.hp2 others(10): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0034 others(10): Show |
13 | 226 | 0.0575 | 11 | c.101 others(32): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 9/10 | chr11 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 17896747 | C | CGGAAGGG others(4): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0017 | 1 | 226 | 0.0044 | 11 | c.101 others(32): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 9/10 | chr11 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 17896760 | G | GAAGGGAA others(4): Show |
intron_variant | MODIFIER | HG01070.hp1 HG03209.hp2 NA19240.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0021 a0001c0001t0002g0137 a0001c0002t0002g0195 |
3 | 226 | 0.0133 | 11 | c.101 others(32): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 9/10 | chr11 | TogoVar | |||||||
SERHL2_chr22_42548956_42579382 | 42559229 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00733.hp2 HG01074.hp2 others(31): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(4): Show | a0001c0001t0001g0012 a0001c0001t0001g0190 a0001c0001t0001g0213 others(23): Show |
34 | 432 | 0.0787 | 11 | c.533 others(26): Show |
SERHL2 | ENSG00000183569.18 | transcript | ENST00000327678.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SERINC1_chr6_122438351_122476807 | 122441327 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 366 | 0.0027 | 11 | c.*37 others(22): Show |
SERINC1 | ENSG00000111897.7 | transcript | ENST00000339697.5 | protein_coding | 2023 | chr6 | TogoVar | |||||||
SERINC1_chr6_122438351_122476807 | 122445883 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 366 | 0.0027 | 11 | c.122 others(28): Show |
SERINC1 | ENSG00000111897.7 | transcript | ENST00000339697.5 | protein_coding | 9/9 | chr6 | TogoVar | |||||||
SERINC1_chr6_122438351_122476807 | 122451770 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02165.hp2 NA18949.hp2 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 3 | 366 | 0.0082 | 11 | c.760 others(24): Show |
SERINC1 | ENSG00000111897.7 | transcript | ENST00000339697.5 | protein_coding | 6/9 | chr6 | TogoVar | |||||||
SERINC1_chr6_122438351_122476807 | 122451772 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 366 | 0.0027 | 11 | c.760 others(24): Show |
SERINC1 | ENSG00000111897.7 | transcript | ENST00000339697.5 | protein_coding | 6/9 | chr6 | TogoVar | |||||||
SERINC1_chr6_122438351_122476807 | 122451774 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 366 | 0.0027 | 11 | c.760 others(24): Show |
SERINC1 | ENSG00000111897.7 | transcript | ENST00000339697.5 | protein_coding | 6/9 | chr6 | TogoVar | |||||||
SERINC1_chr6_122438351_122476807 | 122451776 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02015.hp2 NA18940.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017 | a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0116 others(1): Show |
12 | 366 | 0.0328 | 11 | c.760 others(24): Show |
SERINC1 | ENSG00000111897.7 | transcript | ENST00000339697.5 | protein_coding | 6/9 | chr6 | TogoVar | |||||||
SERINC1_chr6_122438351_122476807 | 122451776 | A | AAAAAAAT others(4): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 | 1 | 366 | 0.0027 | 11 | c.760 others(24): Show |
SERINC1 | ENSG00000111897.7 | transcript | ENST00000339697.5 | protein_coding | 6/9 | chr6 | TogoVar | |||||||
SERINC1_chr6_122438351_122476807 | 122466194 | G | GCAATTCG others(4): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 366 | 0.0027 | 11 | c.39+ others(26): Show |
SERINC1 | ENSG00000111897.7 | transcript | ENST00000339697.5 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31413153 | T | TGGGGCGG others(4): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 376 | 0.0027 | 11 | c.-11 others(20): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 59 | chr1 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31414421 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00609.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0004others(8): Show | a0001c0001t0001g0005 a0001c0001t0001g0294 a0001c0003t0001g0248 others(19): Show |
23 | 376 | 0.0612 | 11 | c.39+ others(26): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
SERINC5_chr5_80133727_80261048 | 80137139 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00621.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0005a0001c0002t0072 | a0001c0002t0003g0085 a0001c0002t0003g0087 a0001c0002t0003g0096 others(8): Show |
11 | 286 | 0.0385 | 11 | c.*65 others(22): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 1587 | chr5 | TogoVar |