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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SELPLG_chr12_108616895_108638894 | 108626128 | CTTTTTTT | C | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01891.hp1 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0061 a0001c0001t0001g0324 a0002c0002t0001g0266 others(2): Show |
7 | 346 | 0.0202 | -7 | c.-5- others(22): Show |
SELPLG | ENSG00000110876.10 | transcript | ENST00000550948.2 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 84009905 | CAAAAAAA | C | intron_variant | MODIFIER | HG00621.hp2 HG01258.hp2 HG01928.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0016 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0106 others(23): Show |
26 | 124 | 0.2097 | -7 | c.995 others(24): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 9/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 84010734 | TTATAATA | T | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00544.hp2 others(199): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(45): Show | a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0064 others(199): Show |
202 | 273 | 0.7399 | -7 | c.995 others(22): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 9/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 84130779 | AATAATAT | A | intron_variant | MODIFIER | HG00544.hp2 HG00741.hp1 HG01106.hp1 others(47): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0064 others(47): Show |
50 | 274 | 0.1825 | -7 | c.271 others(24): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 2/16 | chr7 | TogoVar | |||||||
SEMA3C_chr7_80737538_80924051 | 80827392 | GTTTTTTT | G | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02818.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0004a0001c0002t0001a0001c0007t0003others(2): Show | a0001c0001t0004g0173 a0001c0002t0001g0042 a0001c0002t0001g0044 others(3): Show |
6 | 84 | 0.0714 | -7 | c.327 others(20): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 4/17 | chr7 | TogoVar | |||||||
SEMA3D_chr7_84990553_85192056 | 85147092 | CTTTTTTT | C | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG01261.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0005others(2): Show | a0001c0001t0011a0001c0001t0032a0001c0001t0037others(5): Show | a0001c0001t0011g0115 a0001c0001t0011g0116 a0001c0001t0011g0117 others(11): Show |
14 | 87 | 0.1609 | -7 | c.-41 others(24): Show |
SEMA3D | ENSG00000153993.14 | transcript | ENST00000284136.11 | protein_coding | 2/18 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83639110 | CAAAAAAA | C | intron_variant | MODIFIER | HG00438.hp2 HG00733.hp1 HG00735.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0003a0001c0003t0001others(3): Show | a0001c0001t0001g0042 a0001c0002t0003g0036 a0001c0002t0003g0041 others(14): Show |
17 | 137 | 0.1241 | -7 | c.115 others(24): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 1/16 | chr7 | TogoVar | |||||||
SEMA4A_chr1_156148585_156182744 | 156169407 | CTTTTTTT | C | intron_variant | MODIFIER | HG00544.hp1 HG02040.hp1 HG02056.hp2 others(8): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0005t0001 | a0001c0001t0001g0018 a0001c0001t0001g0041 a0001c0001t0001g0261 others(6): Show |
11 | 265 | 0.0415 | -7 | c.113 others(26): Show |
SEMA4A | ENSG00000196189.14 | transcript | ENST00000368285.8 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SEMA4D_chr9_89372235_89503113 | 89400006 | CAAAAAAA | C | intron_variant | MODIFIER | HG02647.hp1 HG02809.hp2 HG02818.hp1 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0003g0079 others(8): Show |
11 | 93 | 0.1183 | -7 | c.253 others(22): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 4/15 | chr9 | TogoVar | |||||||
SEMA4D_chr9_89372235_89503113 | 89438964 | CTTTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00639.hp2 others(87): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0038 a0001c0001t0001g0058 a0001c0001t0001g0068 others(86): Show |
90 | 115 | 0.7826 | -7 | c.-24 others(28): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 2/15 | chr9 | TogoVar | |||||||
SEMA4D_chr9_89372235_89503113 | 89450659 | GGAAAAAA | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp1 others(109): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0047 others(109): Show |
112 | 229 | 0.4891 | -7 | c.-24 others(26): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 2/15 | chr9 | TogoVar | |||||||
SEMA4D_chr9_89372235_89503113 | 89485788 | CAAAAAAA | C | intron_variant | MODIFIER | HG01952.hp1 HG01993.hp2 HG02622.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0239 a0001c0001t0001g0259 a0001c0001t0001g0261 others(12): Show |
15 | 130 | 0.1154 | -7 | c.-31 others(28): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 1/15 | chr9 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9037156 | TCTACCTC | T | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(98): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(78): Show | a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0018 others(98): Show |
101 | 132 | 0.7652 | -7 | c.*57 others(18): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 23/23 | 5734 | chr5 | TogoVar | ||||||
SEMA5A_chr5_9030033_9551075 | 9109028 | ATTTTTTT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00673.hp1 others(20): Show |
a0001a0004 | a0001c0004a0001c0005a0001c0009others(3): Show | a0001c0004t0001a0001c0004t0005a0001c0004t0010others(13): Show | a0001c0004t0001g0020 a0001c0004t0001g0030 a0001c0004t0001g0039 others(20): Show |
23 | 52 | 0.4423 | -7 | c.192 others(24): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 15/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9230158 | CTTTTTTT | C | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG02965.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0018a0001c0001t0035a0001c0004t0002others(1): Show | a0001c0001t0018g0098 a0001c0001t0035g0059 a0001c0004t0002g0120 others(2): Show |
5 | 82 | 0.0610 | -7 | c.334 others(24): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 6/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9448749 | CTCTGAAA | C | intron_variant | MODIFIER | HG00741.hp1 HG02683.hp2 HG03654.hp2 |
a0001 | a0001c0003a0001c0004a0001c0005 | a0001c0003t0006a0001c0004t0010a0001c0005t0042 | a0001c0003t0006g0074 a0001c0004t0010g0049 a0001c0005t0042g0070 |
3 | 132 | 0.0227 | -7 | c.-17 others(28): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9465074 | TCTGGATC | T | intron_variant | MODIFIER | HG00280.hp1 HG00673.hp1 HG01123.hp1 others(32): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0013a0001c0001t0023a0001c0001t0032others(30): Show | a0001c0001t0013g0036 a0001c0001t0023g0017 a0001c0001t0032g0067 others(32): Show |
35 | 132 | 0.2652 | -7 | c.-17 others(28): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
SEMA5B_chr3_122904082_123032763 | 122918707 | GCCCCTTC | G | intron_variant | MODIFIER | HG00438.hp1 NA18965.hp1 NA19084.hp2 |
a0002a0010 | a0002c0002a0010c0014 | a0002c0002t0001a0010c0014t0002 | a0002c0002t0001g0273 a0010c0014t0002g0076 a0010c0014t0002g0263 |
3 | 288 | 0.0104 | -7 | c.168 others(26): Show |
SEMA5B | ENSG00000082684.16 | transcript | ENST00000357599.8 | protein_coding | 12/22 | chr3 | TogoVar | |||||||
SEMA6A_chr5_116438555_116579823 | 116448170 | TAAAAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(163): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0004a0001c0013others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0026 others(161): Show |
166 | 233 | 0.7124 | -7 | c.189 others(24): Show |
SEMA6A | ENSG00000092421.17 | transcript | ENST00000343348.11 | protein_coding | 18/18 | chr5 | TogoVar | |||||||
SEMA6A_chr5_116438555_116579823 | 116536866 | TAAAAAAA | T | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02280.hp2 others(11): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0006a0001c0001t0008a0001c0001t0010others(6): Show | a0001c0001t0006g0198 a0001c0001t0008g0002 a0001c0001t0008g0276 others(10): Show |
14 | 180 | 0.0778 | -7 | c.-38 others(26): Show |
SEMA6A | ENSG00000092421.17 | transcript | ENST00000343348.11 | protein_coding | 1/18 | chr5 | TogoVar | |||||||
SEMA6C_chr1_151126707_151151631 | 151129194 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00673.hp2 HG01175.hp1 HG01891.hp2 others(18): Show |
a0001a0003a0013 | a0001c0001a0003c0003a0013c0021 | a0001c0001t0004a0003c0003t0004a0003c0003t0006others(1): Show | a0001c0001t0004g0063 a0003c0003t0004g0014 a0003c0003t0004g0043 others(13): Show |
21 | 47 | 0.4468 | -7 | c.*32 others(18): Show |
SEMA6C | ENSG00000143434.17 | transcript | ENST00000368914.8 | protein_coding | 2512 | chr1 | TogoVar | |||||||
SENP1_chr12_48037897_48111079 | 48056483 | TATATTAC | T | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016 | a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0344 others(3): Show |
6 | 392 | 0.0153 | -7 | c.140 others(26): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 13/17 | chr12 | TogoVar | |||||||
SENP1_chr12_48037897_48111079 | 48056664 | TATATTAC | T | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00544.hp1 others(130): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(130): Show |
133 | 392 | 0.3393 | -7 | c.140 others(26): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 13/17 | chr12 | TogoVar | |||||||
SENP1_chr12_48037897_48111079 | 48056700 | TATATTAC | T | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG00609.hp1 others(20): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0018others(5): Show | a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0043 others(20): Show |
23 | 392 | 0.0587 | -7 | c.140 others(26): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 13/17 | chr12 | TogoVar | |||||||
SENP1_chr12_48037897_48111079 | 48085715 | CAAAAAAA | C | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00733.hp1 others(37): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0043 others(37): Show |
40 | 89 | 0.4494 | -7 | c.381 others(24): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 5/17 | chr12 | TogoVar | |||||||
SENP1_chr12_48037897_48111079 | 48104253 | AGACGGGG | A | intron_variant | MODIFIER | HG00408.hp1 HG00642.hp2 HG00733.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0355 others(19): Show |
26 | 75 | 0.3467 | -7 | c.-45 others(24): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 1/17 | chr12 | TogoVar | |||||||
SENP2_chr3_185581295_185638551 | 185590821 | ACTGCACT | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(141): Show |
a0002a0003 | a0002c0002a0002c0005a0002c0007others(1): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0007others(77): Show | a0002c0002t0001g0214 a0002c0002t0001g0216 a0002c0002t0001g0223 others(140): Show |
144 | 358 | 0.4022 | -7 | c.157 others(22): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP6_chr6_75596880_75723281 | 75606791 | AAAAATCT | A | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01074.hp2 others(45): Show |
a0001a0002a0012 | a0001c0001a0001c0004a0001c0008others(2): Show | a0001c0001t0003a0001c0001t0010a0001c0001t0013others(5): Show | a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 others(45): Show |
48 | 360 | 0.1333 | -7 | c.52+ others(22): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 1/23 | chr6 | TogoVar | |||||||
SENP6_chr6_75596880_75723281 | 75638615 | TATATATA | T | intron_variant | MODIFIER | HG04115.hp2 NA18981.hp2 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0102 |
3 | 359 | 0.0084 | -7 | c.459 others(24): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 5/23 | chr6 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101416345 | CTGTTCTG | C | intron_variant | MODIFIER | HG02080.hp2 NA19055.hp2 NA19062.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 a0001c0001t0001g0293 a0001c0001t0001g0307 others(1): Show |
4 | 368 | 0.0109 | -7 | c.482 others(24): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 5/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101513019 | GCTGCCGC | G | intron_variant | MODIFIER | HG00735.hp2 HG01074.hp1 HG02698.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0016 | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0006 others(1): Show |
4 | 368 | 0.0109 | -7 | c.40+ others(18): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 1/23 | chr3 | TogoVar | |||||||
SEPHS1_chr10_13312428_13353293 | 13325895 | CAAAAAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG03704.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0001g0188 a0001c0002t0001g0112 a0001c0002t0001g0185 others(6): Show |
14 | 80 | 0.1750 | -7 | c.751 others(24): Show |
SEPHS1 | ENSG00000086475.15 | transcript | ENST00000327347.10 | protein_coding | 7/8 | chr10 | TogoVar | |||||||
SEPHS1_chr10_13312428_13353293 | 13327240 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(150): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(93): Show |
153 | 162 | 0.9444 | -7 | c.751 others(24): Show |
SEPHS1 | ENSG00000086475.15 | transcript | ENST00000327347.10 | protein_coding | 7/8 | chr10 | TogoVar | |||||||
SEPTIN11_chr4_76944752_77043615 | 77028844 | TGGTCCAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(116): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(9): Show | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0009 others(102): Show |
119 | 368 | 0.3234 | -7 | c.108 others(22): Show |
SEPTIN11 | ENSG00000138758.12 | transcript | ENST00000264893.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEPTIN14_chr7_55788540_55867752 | 55799518 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(104): Show |
a0001a0010 | a0001c0001a0001c0011a0010c0007 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0080 others(103): Show |
107 | 298 | 0.3591 | -7 | c.112 others(26): Show |
SEPTIN14 | ENSG00000154997.9 | transcript | ENST00000388975.4 | protein_coding | 9/9 | chr7 | TogoVar | |||||||
SEPTIN1_chr16_30373135_30387561 | 30385218 | TAATATAA | T | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02886.hp2 HG02922.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008 a0001c0002t0001g0015 |
6 | 308 | 0.0195 | -7 | c.-26 others(18): Show |
SEPTIN1 | ENSG00000180096.13 | transcript | ENST00000321367.8 | protein_coding | 2658 | chr16 | TogoVar | |||||||
SEPTIN3_chr22_41964443_42003221 | 41990745 | CAAAAAAA | C | intron_variant | MODIFIER | HG00438.hp2 HG02486.hp2 HG02559.hp2 others(5): Show |
a0001a0004a0011 | a0001c0001a0004c0004a0011c0010 | a0001c0001t0001a0004c0004t0001a0011c0010t0001 | a0001c0001t0001g0153 a0001c0001t0001g0205 a0001c0001t0001g0253 others(5): Show |
8 | 91 | 0.0879 | -7 | c.216 others(24): Show |
SEPTIN3 | ENSG00000100167.21 | transcript | ENST00000644076.2 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEPTIN6_chrX_119611945_119698168 | 119617142 | GTGTGTGT | G | 3_prime_UTR_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG01981.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 a0001c0001t0001g0165 a0001c0001t0001g0228 others(1): Show |
4 | 250 | 0.0160 | -7 | c.*29 others(18): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 11/11 | 8227 | chrX | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77277286 | CTTTCTTT | C | upstream_gene_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG03195.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0049a0002c0002t0041a0002c0002t0045others(1): Show | a0001c0001t0049g0035 a0002c0002t0041g0041 a0002c0002t0045g0042 others(1): Show |
4 | 148 | 0.0270 | -7 | c.-42 others(18): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 4212 | chr17 | TogoVar | |||||||
SEPTIN9_chr17_77314518_77505593 | 77436180 | AATGGTGG | A | intron_variant | MODIFIER | HG02040.hp1 NA18944.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0039 | a0001c0001t0001g0150 a0001c0001t0039g0051 |
2 | 156 | 0.0128 | -7 | c.667 others(26): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SERAC1_chr6_158104519_158173262 | 158169373 | GTATATTA | G | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02486.hp2 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0007a0001c0003t0009 | a0001c0003t0007g0178 a0001c0003t0007g0181 a0001c0003t0007g0182 others(6): Show |
9 | 359 | 0.0251 | -7 | c.-12 others(18): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 1112 | chr6 | TogoVar | |||||||
SERAC1_chr6_158104519_158173262 | 158169672 | TTATATAA | T | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01099.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0067 a0001c0002t0003g0271 a0001c0002t0003g0283 others(1): Show |
4 | 362 | 0.0110 | -7 | c.-15 others(18): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 1411 | chr6 | TogoVar | |||||||
SERAC1_chr6_158104519_158173262 | 158169707 | GTATATTA | G | upstream_gene_variant | MODIFIER | HG02886.hp2 HG02970.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0020a0001c0001t0022 | a0001c0001t0012g0079 a0001c0001t0020g0077 a0001c0001t0022g0313 |
3 | 336 | 0.0089 | -7 | c.-15 others(18): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 1446 | chr6 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 17857649 | ACAAAACT | A | intron_variant | MODIFIER | HG02486.hp2 HG03041.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0115 a0002c0003t0002g0222 |
2 | 224 | 0.0089 | -7 | c.104 others(28): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 10/10 | chr11 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 17883918 | TTCAAATC | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(72): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(72): Show |
75 | 224 | 0.3348 | -7 | c.101 others(26): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 9/10 | chr11 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 17935955 | TCACTACC | T | intron_variant | MODIFIER | HG02647.hp1 HG02970.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | 224 | 0.0179 | -7 | c.101 others(28): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 9/10 | chr11 | TogoVar | |||||||
SERHL2_chr22_42548956_42579382 | 42552899 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01358.hp2 others(13): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0002a0005c0005t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0019 others(5): Show |
16 | 183 | 0.0874 | -7 | c.-11 others(18): Show |
SERHL2 | ENSG00000183569.18 | transcript | ENST00000327678.10 | protein_coding | 1056 | chr22 | TogoVar | |||||||
SERHL2_chr22_42548956_42579382 | 42571931 | TGGGGGCG | T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(178): Show |
a0002a0003a0004others(4): Show | a0002c0002a0002c0009a0002c0014others(11): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(17): Show | a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0009 others(147): Show |
181 | 400 | 0.4525 | -7 | c.732 others(22): Show |
SERHL2 | ENSG00000183569.18 | transcript | ENST00000327678.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SERINC1_chr6_122438351_122476807 | 122439276 | CACTGGGG | C | downstream_gene_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01071.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0041 a0001c0001t0001g0188 others(4): Show |
11 | 364 | 0.0302 | -7 | c.*57 others(18): Show |
SERINC1 | ENSG00000111897.7 | transcript | ENST00000339697.5 | protein_coding | 4074 | chr6 | TogoVar | |||||||
SERINC5_chr5_80133727_80261048 | 80148182 | TTTTATTC | T | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00642.hp2 others(37): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0001t0031a0001c0001t0036others(9): Show | a0001c0001t0013g0140 a0001c0001t0031g0255 a0001c0001t0031g0256 others(37): Show |
40 | 284 | 0.1408 | -7 | c.105 others(24): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 9/11 | chr5 | TogoVar |