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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDKN2A_chr9_21962752_21999392 | 21975893 | ATTTTTCG others(15): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0122 | 1 | 402 | 0.0025 | -22 | c.194 others(39): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDKN2A_chr9_21962752_21999392 | 21993799 | CTGTGTGT others(15): Show |
C | intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0359 | 1 | 39 | 0.0256 | -22 | c.193 others(37): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 125986850 | TGAGAAAA others(15): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(78): Show |
a0001a0002a0003others(17): Show | a0001c0033a0002c0014a0002c0028others(25): Show | a0001c0033t0004a0001c0033t0043a0002c0014t0012others(50): Show | a0001c0033t0004g0095 a0001c0033t0043g0250 a0002c0014t0012g0013 others(77): Show |
81 | 332 | 0.2440 | -22 | c.277 others(41): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 15/19 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126063335 | AGGCCCCG others(15): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp2 HG03225.hp2 |
a0004a0006 | a0004c0026a0006c0034 | a0004c0026t0022a0006c0034t0002 | a0004c0026t0022g0195 a0006c0034t0002g0035 |
2 | 331 | 0.0060 | -22 | c.-84 others(31): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 470 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126063379 | GGGCCCCG others(15): Show |
G | upstream_gene_variant | MODIFIER | HG02559.hp2 HG03098.hp1 HG03834.hp2 |
a0002a0011a0013 | a0002c0013a0011c0018a0013c0062 | a0002c0013t0098a0011c0018t0005a0013c0062t0097 | a0002c0013t0098g0308 a0011c0018t0005g0213 a0013c0062t0097g0307 |
3 | 332 | 0.0090 | -22 | c.-88 others(31): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 514 | chr11 | TogoVar | |||||||
CDS1_chr4_84578127_84656334 | 84599395 | CACACACA others(15): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0021 | 1 | 156 | 0.0064 | -22 | c.118 others(39): Show |
CDS1 | ENSG00000163624.6 | transcript | ENST00000295887.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CDS2_chr20_5122008_5202887 | 5202773 | CACACACA others(15): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG02257.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0013others(3): Show | a0001c0001t0005g0079 a0001c0001t0005g0133 a0001c0001t0007g0029 others(9): Show |
12 | 346 | 0.0347 | -22 | c.*12 others(35): Show |
CDS2 | ENSG00000101290.14 | transcript | ENST00000460006.6 | protein_coding | 4887 | chr20 | TogoVar | |||||||
CDYL_chr6_4771404_4960544 | 4900779 | GTATATAT others(15): Show |
G | intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 60 | 0.0167 | -22 | c.691 others(39): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEACAM20_chr19_44501159_44534675 | 44510588 | GAAAGAAA others(15): Show |
G | intron_variant | MODIFIER | NA18969.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0147 | 1 | 431 | 0.0023 | -22 | c.173 others(39): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 11/11 | chr19 | TogoVar | |||||||
CEACAM20_chr19_44501159_44534675 | 44510601 | AAAGAAAG others(15): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG00738.hp2 others(39): Show |
a0002a0003a0004others(5): Show | a0002c0002a0003c0012a0004c0003others(6): Show | a0002c0002t0001a0003c0012t0001a0004c0003t0001others(6): Show | a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0035 others(32): Show |
42 | 410 | 0.1024 | -22 | c.173 others(39): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 11/11 | chr19 | TogoVar | |||||||
CEACAM20_chr19_44501159_44534675 | 44528148 | TCTTTCTT others(15): Show |
T | intron_variant | MODIFIER | NA19091.hp1 | a0033 | a0033c0042 | a0033c0042t0001 | a0033c0042t0001g0321 | 1 | 436 | 0.0023 | -22 | c.52+ others(37): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CEACAM20_chr19_44501159_44534675 | 44528161 | TCTTTCTT others(15): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00733.hp1 HG01069.hp1 others(13): Show |
a0002a0004 | a0002c0002a0004c0003 | a0002c0002t0001a0004c0003t0001 | a0002c0002t0001g0285 a0002c0002t0001g0293 a0002c0002t0001g0294 others(10): Show |
16 | 344 | 0.0465 | -22 | c.52+ others(37): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CEACAM20_chr19_44501159_44534675 | 44532531 | AAAGGAAA others(15): Show |
A | upstream_gene_variant | MODIFIER | NA19079.hp2 | a0012 | a0012c0016 | a0012c0016t0001 | a0012c0016t0001g0260 | 1 | 427 | 0.0023 | -22 | c.-30 others(33): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 2857 | chr19 | TogoVar | |||||||
CEACAM20_chr19_44501159_44534675 | 44532543 | GGAAAGAA others(15): Show |
G | upstream_gene_variant | MODIFIER | HG01074.hp2 HG01109.hp1 HG01256.hp2 others(5): Show |
a0001a0005a0006others(1): Show | a0001c0001a0005c0005a0006c0030others(2): Show | a0001c0001t0001a0005c0005t0001a0006c0030t0001others(2): Show | a0001c0001t0001g0018 a0005c0005t0001g0251 a0006c0030t0001g0135 others(4): Show |
8 | 433 | 0.0185 | -22 | c.-30 others(33): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 2869 | chr19 | TogoVar | |||||||
CEACAM20_chr19_44501159_44534675 | 44532544 | GAAAGAAA others(15): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 394 | 0.0025 | -22 | c.-30 others(33): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 2870 | chr19 | TogoVar | |||||||
CEACAM4_chr19_41614015_41632074 | 41626063 | AGTGTGTG others(15): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01346.hp2 HG01433.hp2 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0042 a0001c0001t0001g0113 a0001c0001t0001g0114 others(9): Show |
19 | 37 | 0.5135 | -22 | c.65- others(35): Show |
CEACAM4 | ENSG00000105352.11 | transcript | ENST00000221954.7 | protein_coding | 1/6 | chr19 | TogoVar | |||||||
CEACAM5_chr19_41703626_41735433 | 41707000 | ATCGGCCG others(15): Show |
A | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02630.hp1 others(1): Show |
a0008 | a0008c0008 | a0008c0008t0002a0008c0008t0004a0008c0008t0005 | a0008c0008t0002g0047 a0008c0008t0004g0046 a0008c0008t0004g0048 others(1): Show |
4 | 372 | 0.0108 | -22 | c.-17 others(33): Show |
CEACAM5 | ENSG00000105388.17 | transcript | ENST00000221992.11 | protein_coding | 1625 | chr19 | TogoVar | |||||||
CEACAM5_chr19_41703626_41735433 | 41707013 | CTGAGGCT others(15): Show |
C | upstream_gene_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0076 | 1 | 372 | 0.0027 | -22 | c.-17 others(33): Show |
CEACAM5 | ENSG00000105388.17 | transcript | ENST00000221992.11 | protein_coding | 1612 | chr19 | TogoVar | |||||||
CEACAM5_chr19_41703626_41735433 | 41733365 | CAAGATGA others(15): Show |
C | downstream_gene_variant | MODIFIER | NA18978.hp2 NA18995.hp1 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 a0001c0001t0002g0028 |
3 | 372 | 0.0081 | -22 | c.*42 others(33): Show |
CEACAM5 | ENSG00000105388.17 | transcript | ENST00000221992.11 | protein_coding | 2933 | chr19 | TogoVar | |||||||
CEACAM6_chr19_41750530_41777211 | 41756453 | GACACACA others(15): Show |
G | intron_variant | MODIFIER | HG01123.hp1 HG01884.hp2 HG01891.hp1 others(12): Show |
a0001a0002a0008 | a0001c0001a0001c0008a0001c0018others(3): Show | a0001c0001t0004a0001c0008t0004a0001c0018t0001others(4): Show | a0001c0001t0004g0180 a0001c0008t0004g0026 a0001c0018t0001g0176 others(5): Show |
15 | 125 | 0.1200 | -22 | c.65- others(35): Show |
CEACAM6 | ENSG00000086548.9 | transcript | ENST00000199764.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CEBPD_chr8_47731913_47743164 | 47735095 | GGTGTGTG others(15): Show |
G | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02258.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 8 | 310 | 0.0258 | -22 | c.*21 others(33): Show |
CEBPD | ENSG00000221869.5 | transcript | ENST00000408965.4 | protein_coding | 1817 | chr8 | TogoVar | |||||||
CEBPZOS_chr2_37191496_37209743 | 37202644 | CAAAAAAA others(15): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(203): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(36): Show |
206 | 307 | 0.6710 | -22 | c.*81 others(31): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 5/5 | 947 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CEBPZ_chr2_37196612_37236596 | 37202644 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(180): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(9): Show | a0001c0001t0001g0099 a0001c0001t0001g0134 a0001c0001t0001g0139 others(91): Show |
183 | 277 | 0.6607 | -22 | c.302 others(39): Show |
CEBPZ | ENSG00000115816.15 | transcript | ENST00000234170.10 | protein_coding | 15/15 | chr2 | TogoVar | |||||||
CELA1_chr12_51323442_51351679 | 51344757 | CTTAGGTC others(15): Show |
C | intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0110 | 1 | 404 | 0.0025 | -22 | c.100 others(37): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 2/7 | chr12 | TogoVar | |||||||
CELA2A_chr1_15451732_15477091 | 15458908 | TAAAAAAA others(15): Show |
T | intron_variant | MODIFIER | HG02027.hp1 HG02486.hp2 NA19006.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 others(2): Show |
5 | 8 | 0.6250 | -22 | c.129 others(39): Show |
CELA2A | ENSG00000142615.8 | transcript | ENST00000359621.5 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CELF1_chr11_47460937_47558132 | 47545850 | CGTGTGTG others(15): Show |
C | intron_variant | MODIFIER | HG02896.hp1 HG03098.hp2 |
a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0308 a0001c0003t0011g0309 |
2 | 313 | 0.0064 | -22 | c.-15 others(41): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | |||||||
CELF2_chr10_11012872_11341675 | 11202901 | ATCTCTCT others(15): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0070 | 1 | 130 | 0.0077 | -22 | c.272 others(41): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11202933 | CTCTCTCT others(15): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0036 | a0001c0001t0032g0075 a0001c0001t0036g0016 |
2 | 192 | 0.0104 | -22 | c.272 others(41): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11285826 | GGTGTGTG others(15): Show |
G | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 68 | 0.0147 | -22 | c.842 others(39): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11285857 | GTGTGTGT others(15): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02559.hp2 HG02976.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0021a0001c0002t0009 | a0001c0001t0003g0038 a0001c0001t0021g0022 a0001c0002t0009g0057 |
3 | 192 | 0.0156 | -22 | c.842 others(39): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11301495 | CCCCCCAC others(15): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02258.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0003g0007 others(10): Show |
13 | 192 | 0.0677 | -22 | c.977 others(41): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF6_chr15_72279727_72325157 | 72299140 | GGAGTTGT others(15): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG02083.hp1 HG02559.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0006 a0001c0001t0002g0144 a0001c0001t0002g0145 others(5): Show |
12 | 298 | 0.0403 | -22 | c.394 others(39): Show |
CELF6 | ENSG00000140488.16 | transcript | ENST00000287202.10 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71770444 | AGAAGCAG others(15): Show |
A | upstream_gene_variant | MODIFIER | HG02300.hp2 | a0007 | a0007c0010 | a0007c0010t0004 | a0007c0010t0004g0197 | 1 | 318 | 0.0031 | -22 | c.-21 others(33): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 1932 | chr9 | TogoVar | |||||||
CEMIP_chr15_80774370_80956771 | 80848953 | ATTTTTTT others(15): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG02572.hp1 HG02717.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(3): Show | a0001c0001t0001g0070 a0001c0001t0001g0239 a0001c0001t0005g0249 others(4): Show |
7 | 8 | 0.8750 | -22 | c.-17 others(43): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CENPC_chr4_67463762_67550503 | 67491446 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0078 | 1 | 191 | 0.0052 | -22 | c.251 others(39): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 16/18 | chr4 | TogoVar | |||||||
CENPF_chr1_214598195_214669571 | 214616834 | CCTCTTTC others(15): Show |
C | intron_variant | MODIFIER | HG02486.hp1 | a0017 | a0017c0020 | a0017c0020t0006 | a0017c0020t0006g0187 | 1 | 270 | 0.0037 | -22 | c.360 others(39): Show |
CENPF | ENSG00000117724.15 | transcript | ENST00000366955.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24881816 | CTATATAG others(15): Show |
C | downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0149 | 1 | 395 | 0.0025 | -22 | c.*13 others(33): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 462 | chr13 | TogoVar | |||||||
CENPK_chr5_65512766_65568168 | 65527498 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG02818.hp1 HG02896.hp2 HG02897.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0039 a0001c0001t0001g0136 a0001c0001t0001g0164 others(3): Show |
7 | 10 | 0.7000 | -22 | c.597 others(37): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 9/10 | chr5 | TogoVar | |||||||
CENPK_chr5_65512766_65568168 | 65545322 | GCGCACAC others(15): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(98): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 others(78): Show |
101 | 183 | 0.5519 | -22 | c.242 others(39): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 5/10 | chr5 | TogoVar | |||||||
CENPVL1_chrX_51705512_51717131 | 51707495 | AACACACA others(15): Show |
A | upstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 24 | 0.0417 | -22 | c.-30 others(33): Show |
CENPVL1 | ENSG00000223591.5 | transcript | ENST00000602548.2 | protein_coding | 3016 | chrX | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65649073 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0041 a0001c0003t0001g0107 |
2 | 15 | 0.1333 | -22 | c.269 others(41): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 24/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65821522 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG03041.hp2 |
a0001a0002 | a0001c0003a0002c0007 | a0001c0003t0001a0002c0007t0001 | a0001c0003t0001g0007 a0002c0007t0001g0108 |
2 | 110 | 0.0182 | -22 | c.239 others(43): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 21/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65864913 | AGTGTGTG others(15): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG01255.hp1 HG02145.hp1 others(7): Show |
a0001a0002a0005 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0003t0002a0002c0001t0001others(2): Show | a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0003t0002g0112 others(7): Show |
10 | 28 | 0.3571 | -22 | c.216 others(43): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 20/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65920362 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG02027.hp2 HG02572.hp2 HG03688.hp2 others(2): Show |
a0001a0003 | a0001c0003a0003c0006 | a0001c0003t0001a0001c0003t0002a0003c0006t0002 | a0001c0003t0001g0032 a0001c0003t0001g0065 a0001c0003t0001g0081 others(2): Show |
5 | 11 | 0.4545 | -22 | c.198 others(41): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 19/26 | chr17 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101911094 | CTTTTTTT others(15): Show |
C | upstream_gene_variant | MODIFIER | HG01975.hp1 HG02647.hp1 HG03130.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(1): Show | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 others(3): Show |
6 | 12 | 0.5000 | -22 | c.-41 others(33): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 3915 | chr11 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 102003180 | GTGTGTGT others(15): Show |
G | downstream_gene_variant | MODIFIER | HG03098.hp1 HG03471.hp1 HG03486.hp2 others(2): Show |
a0001a0007a0010 | a0001c0009a0007c0008a0010c0015 | a0001c0009t0055a0001c0009t0063a0007c0008t0030others(1): Show | a0001c0009t0055g0303 a0001c0009t0063g0011 a0007c0008t0030g0041 others(2): Show |
5 | 292 | 0.0171 | -22 | c.*55 others(33): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2119 | chr11 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 102004895 | CATATATA others(15): Show |
C | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02080.hp1 HG02257.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0039a0003c0004t0010others(4): Show | a0001c0001t0002g0258 a0001c0001t0039g0320 a0003c0004t0010g0010 others(6): Show |
10 | 77 | 0.1299 | -22 | c.*72 others(33): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 3834 | chr11 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80619359 | GACACACA others(15): Show |
G | intron_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0141 | 1 | 161 | 0.0062 | -22 | c.280 others(43): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80647037 | GTATATAT others(15): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01891.hp2 HG02615.hp1 others(10): Show |
a0001a0005a0006others(1): Show | a0001c0001a0005c0005a0006c0007others(1): Show | a0001c0001t0001a0001c0001t0005a0005c0005t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0012 others(10): Show |
13 | 77 | 0.1688 | -22 | c.280 others(43): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80656275 | TTATTTAT others(15): Show |
T | intron_variant | MODIFIER | HG06807.hp1 NA18942.hp2 NA18979.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0004a0003c0003t0002 | a0001c0001t0004g0137 a0003c0003t0002g0098 a0003c0003t0002g0125 others(1): Show |
4 | 112 | 0.0357 | -22 | c.280 others(43): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar |