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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CECR2_chr22_17364460_17563151 | 17482115 | CAAAAAAA | C | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG01109.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0015others(4): Show | a0001c0001t0002g0057 a0001c0001t0003g0049 a0001c0001t0015g0288 others(4): Show |
7 | 42 | 0.1667 | -7 | c.221 others(24): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17525285 | CCAAAAAA | C | intron_variant | MODIFIER | HG00642.hp2 HG01081.hp2 HG01361.hp1 others(2): Show |
a0003 | a0003c0003a0003c0025 | a0003c0003t0006a0003c0003t0050a0003c0025t0006 | a0003c0003t0006g0183 a0003c0003t0006g0209 a0003c0003t0006g0212 others(2): Show |
5 | 161 | 0.0311 | -7 | c.110 others(26): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | chr22 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17532700 | CTTTTTTT | C | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG01168.hp2 others(12): Show |
a0001a0003a0016 | a0001c0001a0003c0003a0003c0025others(1): Show | a0001c0001t0030a0001c0001t0045a0001c0001t0046others(6): Show | a0001c0001t0030g0011 a0001c0001t0045g0245 a0001c0001t0046g0292 others(12): Show |
15 | 31 | 0.4839 | -7 | c.110 others(26): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17540234 | CAATATAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG00673.hp2 others(41): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0013a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0063 others(41): Show |
44 | 322 | 0.1366 | -7 | c.149 others(24): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 13/18 | chr22 | TogoVar | |||||||
CELA2A_chr1_15451732_15477091 | 15455888 | GTCTCTGC | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(278): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(179): Show |
281 | 428 | 0.6565 | -7 | c.-86 others(16): Show |
CELA2A | ENSG00000142615.8 | transcript | ENST00000359621.5 | protein_coding | 843 | chr1 | TogoVar | |||||||
CELA2A_chr1_15451732_15477091 | 15455898 | TCTGCTCC | T | upstream_gene_variant | MODIFIER | HG01074.hp1 HG01099.hp2 HG01257.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0110 a0001c0002t0001g0232 a0001c0002t0001g0233 others(11): Show |
14 | 427 | 0.0328 | -7 | c.-85 others(16): Show |
CELA2A | ENSG00000142615.8 | transcript | ENST00000359621.5 | protein_coding | 833 | chr1 | TogoVar | |||||||
CELA3A_chr1_21996657_22017542 | 22014082 | GAAAAAAA | G | downstream_gene_variant | MODIFIER | HG00673.hp1 HG00735.hp1 HG01070.hp2 others(55): Show |
a0001a0002a0003others(2): Show | a0001c0003a0002c0004a0002c0017others(3): Show | a0001c0003t0001a0002c0004t0001a0002c0017t0001others(3): Show | a0001c0003t0001g0128 a0002c0004t0001g0006 a0002c0004t0001g0008 others(23): Show |
58 | 66 | 0.8788 | -7 | c.*16 others(18): Show |
CELA3A | ENSG00000142789.20 | transcript | ENST00000290122.8 | protein_coding | 1541 | chr1 | TogoVar | |||||||
CELA3B_chr1_21972022_21994354 | 21979446 | TTCTTTTC | T | intron_variant | MODIFIER | HG02055.hp2 HG02895.hp1 HG02896.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0017 a0001c0001t0001g0038 a0001c0001t0001g0087 others(3): Show |
6 | 442 | 0.0136 | -7 | c.129 others(23): Show |
CELA3B | ENSG00000219073.8 | transcript | ENST00000337107.11 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CELF1_chr11_47460937_47558132 | 47541686 | CAAAGAAA | C | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp2 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0004 others(1): Show |
5 | 280 | 0.0179 | -7 | c.-15 others(28): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | |||||||
CELF2_chr10_11012872_11341675 | 11032146 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(47): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(26): Show | a0001c0001t0001g0079 a0001c0001t0001g0109 a0001c0001t0001g0115 others(47): Show |
50 | 89 | 0.5618 | -7 | c.74+ others(24): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11086578 | TAAAAAAA | T | intron_variant | MODIFIER | HG00741.hp2 HG01074.hp1 HG01255.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0001t0012a0001c0001t0046others(4): Show | a0001c0001t0003g0171 a0001c0001t0012g0083 a0001c0001t0046g0069 others(4): Show |
7 | 30 | 0.2333 | -7 | c.74+ others(24): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11093252 | AGTTTGGT | A | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00639.hp2 others(79): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0031 a0001c0001t0001g0085 a0001c0001t0001g0108 others(79): Show |
82 | 192 | 0.4271 | -7 | c.75- others(24): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11099881 | CAACAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00735.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(17): Show | a0001c0001t0001g0104 a0001c0001t0003g0038 a0001c0001t0003g0071 others(30): Show |
33 | 173 | 0.1908 | -7 | c.75- others(24): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11100558 | ACTTTCAG | A | intron_variant | MODIFIER | HG00735.hp1 HG02622.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0040 | a0001c0002t0001g0033 a0001c0004t0040g0141 |
2 | 192 | 0.0104 | -7 | c.75- others(24): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | chr10 | TogoVar | |||||||
CELF5_chr19_3219661_3302076 | 3301326 | GTTTTTTT | G | downstream_gene_variant | MODIFIER | HG00597.hp1 HG01261.hp2 HG02523.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0004g0072 a0001c0001t0004g0077 a0001c0001t0004g0109 others(6): Show |
9 | 30 | 0.3000 | -7 | c.*46 others(18): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 4251 | chr19 | TogoVar | |||||||
CEMIP_chr15_80774370_80956771 | 80848953 | ATTTTTTT | A | intron_variant | MODIFIER | HG02280.hp1 HG03017.hp2 NA18612.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0028 a0001c0001t0001g0051 a0001c0001t0002g0180 others(2): Show |
5 | 6 | 0.8333 | -7 | c.-17 others(28): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80917287 | GGGCAGGA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(27): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(151): Show |
154 | 195 | 0.7897 | -7 | c.179 others(26): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 14/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CENATAC_chr11_118993138_119020793 | 119017671 | CAAAAACA | C | downstream_gene_variant | MODIFIER | HG00621.hp2 HG01952.hp2 HG02080.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 others(3): Show |
6 | 316 | 0.0190 | -7 | c.*20 others(18): Show |
CENATAC | ENSG00000186166.9 | transcript | ENST00000334418.6 | protein_coding | 1879 | chr11 | TogoVar | |||||||
CENPC_chr4_67463762_67550503 | 67524367 | GGAAGAGA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(226): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0012a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(32): Show | a0001c0001t0001g0015 a0001c0001t0001g0079 a0001c0001t0001g0098 others(221): Show |
229 | 336 | 0.6815 | -7 | c.332 others(24): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 5/18 | chr4 | TogoVar | |||||||
CENPE_chr4_103100811_103203343 | 103102343 | ATATTTTT | A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00558.hp1 others(50): Show |
a0003a0008 | a0003c0003a0003c0029a0008c0009 | a0003c0003t0001a0003c0029t0001a0008c0009t0001 | a0003c0003t0001g0003 a0003c0003t0001g0069 a0003c0003t0001g0101 others(48): Show |
53 | 316 | 0.1677 | -7 | c.*38 others(18): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 3467 | chr4 | TogoVar | |||||||
CENPH_chr5_69184583_69215357 | 69213181 | TGTCTCAA | T | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02630.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043 a0001c0001t0003g0257 a0001c0001t0003g0258 others(1): Show |
5 | 386 | 0.0130 | -7 | c.*33 others(18): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 2825 | chr5 | TogoVar | |||||||
CENPK_chr5_65512766_65568168 | 65518361 | AAGATGGC | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(66): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0007a0002c0004t0002 | a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 others(60): Show |
69 | 372 | 0.1855 | -7 | c.*10 others(16): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 11/11 | 107 | chr5 | TogoVar | ||||||
CENPK_chr5_65512766_65568168 | 65532910 | CAAAAAAA | C | intron_variant | MODIFIER | HG00741.hp2 HG01256.hp1 HG01952.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0241 a0001c0001t0002g0101 a0001c0001t0004g0017 others(32): Show |
38 | 66 | 0.5758 | -7 | c.289 others(24): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
CENPK_chr5_65512766_65568168 | 65563628 | CTCTCACT | C | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01256.hp1 HG01952.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0241 a0001c0001t0004g0040 a0001c0001t0004g0223 others(27): Show |
31 | 372 | 0.0833 | -7 | c.-67 others(16): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 461 | chr5 | TogoVar | |||||||
CENPK_chr5_65512766_65568168 | 65564318 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(80): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0261 others(72): Show |
83 | 209 | 0.3971 | -7 | c.-13 others(18): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 1151 | chr5 | TogoVar | |||||||
CENPP_chr9_92320953_92625529 | 92449437 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00639.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0097 a0001c0001t0001g0123 a0001c0001t0001g0124 others(6): Show |
9 | 16 | 0.5625 | -7 | c.564 others(26): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92528614 | CCACCAGT | C | intron_variant | MODIFIER | HG00642.hp2 HG01358.hp1 HG02300.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0009 a0001c0001t0008g0010 a0001c0001t0008g0011 others(4): Show |
7 | 260 | 0.0269 | -7 | c.565 others(26): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92533329 | ATATATAT | A | intron_variant | MODIFIER | HG03209.hp1 NA18966.hp2 NA18975.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009 | a0001c0001t0002g0054 a0001c0001t0004g0004 a0001c0001t0009g0046 others(1): Show |
4 | 256 | 0.0156 | -7 | c.565 others(26): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | chr9 | TogoVar | |||||||
CENPQ_chr6_49458370_49498107 | 49482655 | CTCGGCGA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(142): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 others(105): Show |
145 | 360 | 0.4028 | -7 | c.477 others(24): Show |
CENPQ | ENSG00000031691.7 | transcript | ENST00000335783.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CENPV_chr17_16337537_16358469 | 16354411 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00438.hp1 HG01975.hp2 HG02683.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(2): Show |
7 | 43 | 0.1628 | -7 | c.-98 others(16): Show |
CENPV | ENSG00000166582.11 | transcript | ENST00000299736.5 | protein_coding | 943 | chr17 | TogoVar | |||||||
CEP104_chr1_3807086_3862211 | 3856816 | GCCCGCGC | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(105): Show |
a0001a0003a0004others(6): Show | a0001c0001a0003c0003a0004c0007others(6): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(20): Show | a0001c0001t0003g0009 a0001c0001t0003g0026 a0001c0001t0003g0027 others(91): Show |
108 | 370 | 0.2919 | -7 | c.-15 others(20): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 1/21 | chr1 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65989245 | AAAAAAAG | A | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00735.hp2 others(23): Show |
a0001a0002a0006 | a0001c0003a0002c0001a0006c0009 | a0001c0003t0001a0002c0001t0001a0002c0001t0002others(2): Show | a0001c0003t0001g0041 a0001c0003t0001g0082 a0001c0003t0001g0107 others(23): Show |
26 | 110 | 0.2364 | -7 | c.173 others(28): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65992938 | ATTTTTAC | A | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00642.hp1 others(63): Show |
a0001a0002a0003others(2): Show | a0001c0003a0002c0001a0002c0004others(5): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(13): Show | a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0009 others(63): Show |
66 | 110 | 0.6000 | -7 | c.173 others(28): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | |||||||
CEP120_chr5_123339892_123428403 | 123356612 | AATTTGTC | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(158): Show |
a0001a0002a0003others(1): Show | a0001c0006a0002c0002a0002c0009others(4): Show | a0001c0006t0001a0002c0002t0001a0002c0002t0014others(8): Show | a0001c0006t0001g0102 a0002c0002t0001g0005 a0002c0002t0001g0016 others(141): Show |
161 | 374 | 0.4305 | -7 | c.258 others(26): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 18/19 | chr5 | TogoVar | |||||||
CEP120_chr5_123339892_123428403 | 123414971 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(140): Show |
a0001a0002a0003others(1): Show | a0001c0006a0002c0002a0002c0009others(3): Show | a0001c0006t0002a0002c0002t0001a0002c0002t0014others(7): Show | a0001c0006t0002g0325 a0002c0002t0001g0005 a0002c0002t0001g0016 others(123): Show |
143 | 196 | 0.7296 | -7 | c.321 others(24): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 3/19 | chr5 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80520989 | ATTTTTTT | A | intron_variant | MODIFIER | HG02145.hp2 HG02280.hp1 HG02572.hp1 others(4): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0007others(1): Show | a0001c0001t0004a0001c0001t0005a0002c0002t0004others(2): Show | a0001c0001t0004g0094 a0001c0001t0005g0011 a0001c0001t0005g0013 others(4): Show |
7 | 138 | 0.0507 | -7 | c.307 others(26): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 23/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80626470 | CAAAAAAA | C | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG00735.hp1 others(55): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0012a0001c0014others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 others(55): Show |
58 | 84 | 0.6905 | -7 | c.280 others(28): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80856715 | CTTTTCTT | C | intron_variant | MODIFIER | HG02280.hp1 HG02922.hp2 HG03195.hp2 others(4): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0002a0001c0001t0005a0005c0005t0001 | a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0005g0009 others(4): Show |
7 | 159 | 0.0440 | -7 | c.762 others(24): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 9/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80856720 | CTTTTTTT | C | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp1 HG01175.hp1 others(13): Show |
a0001a0002a0003 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0002g0112 a0001c0001t0002g0155 a0001c0001t0002g0156 others(13): Show |
16 | 100 | 0.1600 | -7 | c.762 others(24): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 9/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80944822 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01175.hp1 HG01243.hp1 others(18): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0009a0003c0003others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 others(18): Show |
21 | 54 | 0.3889 | -7 | c.-34 others(18): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 3085 | chr14 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84131822 | GAGCATTT | G | intron_variant | MODIFIER | HG02723.hp2 HG02809.hp2 NA20129.hp2 |
a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0002 a0001c0007t0002g0117 |
3 | 212 | 0.0142 | -7 | c.387 others(26): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 25/26 | chr6 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84137372 | TTCCACTA | T | intron_variant | MODIFIER | HG01109.hp1 HG02486.hp1 HG03139.hp2 |
a0001 | a0001c0004 | a0001c0004t0002a0001c0004t0007 | a0001c0004t0002g0184 a0001c0004t0002g0185 a0001c0004t0007g0202 |
3 | 212 | 0.0142 | -7 | c.387 others(26): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 25/26 | chr6 | TogoVar | |||||||
CEP162_chr6_84119250_84232643 | 84170373 | CAAAAAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02055.hp1 others(25): Show |
a0001a0002a0006 | a0001c0001a0001c0005a0001c0007others(3): Show | a0001c0001t0002a0001c0005t0004a0001c0005t0005others(4): Show | a0001c0001t0002g0001 a0001c0001t0002g0030 a0001c0001t0002g0031 others(20): Show |
28 | 116 | 0.2414 | -7 | c.228 others(24): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 17/26 | chr6 | TogoVar | |||||||
CEP164_chr11_117322854_117418266 | 117339511 | CTTTGTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00741.hp1 others(14): Show |
a0003a0004a0005others(1): Show | a0003c0003a0004c0009a0005c0007others(1): Show | a0003c0003t0004a0003c0003t0017a0004c0009t0008others(2): Show | a0003c0003t0004g0038 a0003c0003t0004g0111 a0003c0003t0004g0113 others(14): Show |
17 | 388 | 0.0438 | -7 | c.82+ others(20): Show |
CEP164 | ENSG00000110274.16 | transcript | ENST00000278935.8 | protein_coding | 3/32 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP164_chr11_117322854_117418266 | 117352481 | GTTCAAGA | G | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 NA20129.hp1 |
a0004a0008a0014 | a0004c0034a0008c0011a0014c0030 | a0004c0034t0007a0008c0011t0007a0014c0030t0021 | a0004c0034t0007g0042 a0008c0011t0007g0031 a0014c0030t0021g0041 |
3 | 380 | 0.0079 | -7 | c.393 others(22): Show |
CEP164 | ENSG00000110274.16 | transcript | ENST00000278935.8 | protein_coding | 5/32 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP164_chr11_117322854_117418266 | 117363759 | CTTTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00621.hp2 others(12): Show |
a0002 | a0002c0001 | a0002c0001t0003a0002c0001t0004 | a0002c0001t0003g0001 a0002c0001t0003g0095 a0002c0001t0003g0183 others(7): Show |
15 | 204 | 0.0735 | -7 | c.765 others(22): Show |
CEP164 | ENSG00000110274.16 | transcript | ENST00000278935.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP170_chr1_243119428_243260281 | 243245730 | CAAACAAA | C | intron_variant | MODIFIER | HG02818.hp2 HG03041.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(1): Show |
4 | 302 | 0.0132 | -7 | c.-42 others(24): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
CEP192_chr18_12986362_13130036 | 12990222 | TGTGTGTG | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01099.hp2 HG03834.hp1 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0134 a0005c0005t0001g0135 a0005c0005t0001g0136 |
3 | 390 | 0.0077 | -7 | c.-12 others(18): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 1139 | chr18 | TogoVar | |||||||
CEP192_chr18_12986362_13130036 | 12999828 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG01071.hp2 others(60): Show |
a0005a0008a0015others(4): Show | a0005c0005a0008c0008a0015c0014others(4): Show | a0005c0005t0001a0008c0008t0001a0015c0014t0001others(4): Show | a0005c0005t0001g0014 a0005c0005t0001g0016 a0005c0005t0001g0115 others(58): Show |
63 | 300 | 0.2100 | -7 | c.164 others(22): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 2/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CEP192_chr18_12986362_13130036 | 13000091 | CTTTTTTT | C | intron_variant | MODIFIER | HG00621.hp2 HG01167.hp1 HG02615.hp1 others(9): Show |
a0001a0005a0009others(2): Show | a0001c0036a0005c0005a0009c0009others(2): Show | a0001c0036t0001a0005c0005t0001a0009c0009t0001others(2): Show | a0001c0036t0001g0222 a0005c0005t0001g0124 a0009c0009t0001g0003 others(6): Show |
12 | 163 | 0.0736 | -7 | c.164 others(22): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 2/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |