regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CELF5_chr19_3219661_3302076 | 3299578 | T | TTCTTCTT others(16): Show |
downstream_gene_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 262 | 0.0038 | 23 | c.*28 others(34): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2503 | chr19 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3299580 | T | TTCTTCTT others(16): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0238a0001c0001t0005g0241 | 2 | 262 | 0.0076 | 23 | c.*28 others(34): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2505 | chr19 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80839289 | A | ATGTGTGT others(16): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 254 | 0.0039 | 23 | c.-17 others(44): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | chr15 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80900679 | T | TGTGTGTG others(16): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0105 | 1 | 254 | 0.0039 | 23 | c.141 others(42): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 12/29 | chr15 | TogoVar | ||||||
CEMP1_chr16_2525035_2536408 | 2533430 | A | ATTTTTTT others(16): Show |
upstream_gene_variant | MODIFIER | HG02083.hp1 HG03486.hp1 HG04228.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 8 | 348 | 0.0230 | 23 | c.-23 others(34): Show |
CEMP1 | ENSG00000205923.3 | transcript | ENST00000567119.1 | protein_coding | 2023 | chr16 | TogoVar | ||||||
CENATAC_chr11_118993138_119020793 | 119006075 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 318 | 0.0031 | 23 | c.384 others(40): Show |
CENATAC | ENSG00000186166.9 | transcript | ENST00000334418.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CENPA_chr2_26781056_26799589 | 26784448 | C | CTTTTTTT others(16): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0051 | 2 | 382 | 0.0052 | 23 | c.-17 others(34): Show |
CENPA | ENSG00000115163.15 | transcript | ENST00000335756.9 | protein_coding | 1607 | chr2 | TogoVar | ||||||
CENPO_chr2_24788425_24827376 | 24817466 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03710.hp1 HG04228.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0009a0002c0002t0037 | a0002c0002t0009g0074a0002c0002t0009g0075a0002c0002t0009g0153others(1): Show | 4 | 382 | 0.0105 | 23 | c.767 others(38): Show |
CENPO | ENSG00000138092.11 | transcript | ENST00000380834.7 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92532015 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02698.hp2 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0046 | a0001c0001t0016g0083a0001c0001t0046g0259 | 2 | 260 | 0.0077 | 23 | c.565 others(42): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CEP104_chr1_3807086_3862211 | 3825031 | G | GGGGGGGC others(16): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02738.hp2 HG02809.hp2 |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0007 | a0001c0001t0004a0003c0003t0012a0004c0007t0009 | a0001c0001t0004g0143a0003c0003t0012g0290a0004c0007t0009g0250 | 3 | 382 | 0.0079 | 23 | c.236 others(40): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 18/21 | chr1 | TogoVar | ||||||
CEP104_chr1_3807086_3862211 | 3825053 | A | AGGGGGCA others(16): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0213 | 1 | 382 | 0.0026 | 23 | c.236 others(40): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 18/21 | chr1 | TogoVar | ||||||
CEP104_chr1_3807086_3862211 | 3825053 | A | AGGGGGCA others(16): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(181): Show |
a0001a0003a0004others(10): Show | a0001c0001a0003c0003a0003c0004others(11): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(33): Show | a0001c0001t0003g0028a0001c0001t0003g0030a0001c0001t0003g0237others(151): Show | 184 | 382 | 0.4817 | 23 | c.236 others(40): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 18/21 | chr1 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65654056 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0103 | 1 | 112 | 0.0089 | 23 | c.269 others(44): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 24/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65733246 | T | TTATTGTT others(16): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0101 | 1 | 112 | 0.0089 | 23 | c.260 others(42): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 23/26 | chr17 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101938159 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0299 | 1 | 336 | 0.0030 | 23 | c.249 others(40): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 101938159 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0279 | 1 | 336 | 0.0030 | 23 | c.249 others(40): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 102003215 | T | TATATATA others(16): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 NA20300.hp1 |
a0003 | a0003c0004 | a0003c0004t0010a0003c0004t0021 | a0003c0004t0010g0307a0003c0004t0021g0315 | 2 | 336 | 0.0060 | 23 | c.*55 others(34): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2154 | chr11 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80617762 | T | TGAGACCC others(16): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0005 | a0005c0005 | a0005c0005t0009 | a0005c0005t0009g0050 | 1 | 164 | 0.0061 | 23 | c.280 others(44): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80946308 | T | TTGATGCC others(16): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG01891.hp2 HG02109.hp1 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0008t0005others(5): Show | a0001c0001t0001g0012a0001c0001t0005g0006a0001c0001t0005g0009others(14): Show | 17 | 164 | 0.1037 | 23 | c.-49 others(34): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 4571 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80946323 | G | GCATCATG others(16): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0057 | 1 | 164 | 0.0061 | 23 | c.-49 others(34): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 4586 | chr14 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104878722 | A | ACAGGTGG others(16): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01099.hp1 HG01496.hp1 others(11): Show |
a0001a0017a0024 | a0001c0006a0001c0034a0001c0035others(4): Show | a0001c0006t0005a0001c0006t0007a0001c0034t0004others(5): Show | a0001c0006t0005g0023a0001c0006t0005g0036a0001c0006t0005g0074others(10): Show | 14 | 328 | 0.0427 | 23 | c.333 others(38): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CEP170_chr1_243119428_243260281 | 243159802 | T | TGTGTGTG others(16): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 303 | 0.0033 | 23 | c.367 others(42): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 13/19 | chr1 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180103953 | C | CAAATATA others(16): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
a0002a0017 | a0002c0002a0017c0021 | a0002c0002t0004a0002c0002t0015a0002c0002t0020others(1): Show | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | 248 | 0.0726 | 23 | c.918 others(42): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP41_chr7_130388771_130446016 | 130437764 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0030 | 1 | 346 | 0.0029 | 23 | c.33+ others(38): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1/10 | chr7 | TogoVar | ||||||
CEP57L1_chr6_109090507_109179418 | 109116120 | A | ATTTTATT others(16): Show |
intron_variant | MODIFIER | HG03453.hp1 NA18906.hp1 |
a0003 | a0003c0005 | a0003c0005t0032a0003c0005t0033 | a0003c0005t0032g0004a0003c0005t0033g0004 | 2 | 228 | 0.0088 | 23 | c.-4+ others(40): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57_chr11_95785498_95837693 | 95822677 | G | GTGCCTTT others(16): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(86): Show |
a0002 | a0002c0002a0002c0004a0002c0007 | a0002c0002t0002a0002c0002t0004a0002c0002t0010others(2): Show | a0002c0002t0002g0015a0002c0002t0002g0016a0002c0002t0002g0017others(72): Show | 89 | 340 | 0.2618 | 23 | c.885 others(38): Show |
CEP57 | ENSG00000166037.11 | transcript | ENST00000325542.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP63_chr3_134481057_134570031 | 134547614 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01884.hp2 HG04115.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0300a0002c0002t0001g0223a0002c0002t0001g0238others(2): Show | 5 | 322 | 0.0155 | 23 | c.106 others(40): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP76_chr18_12667625_12707723 | 12683186 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | NA19002.hp2 NA19060.hp2 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074 | 3 | 380 | 0.0079 | 23 | c.112 others(42): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 8/11 | chr18 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118542900 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01358.hp1 HG02809.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0031 | a0002c0002t0002g0196a0002c0002t0002g0226a0002c0002t0031g0302 | 3 | 302 | 0.0099 | 23 | c.102 others(44): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118569341 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0260 | 1 | 302 | 0.0033 | 23 | c.233 others(40): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GGGGGGGG others(16): Show |
intron_variant | MODIFIER | NA18973.hp2 NA18992.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0213a0002c0002t0002g0215 | 2 | 302 | 0.0066 | 23 | c.232 others(42): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26256928 | G | GTGTGTGT others(16): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0252 | 1 | 342 | 0.0029 | 23 | c.904 others(38): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 4/13 | chr1 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26282328 | A | AGGGACTG others(16): Show |
downstream_gene_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 342 | 0.0029 | 23 | c.*50 others(34): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3521 | chr1 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32944220 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0000 | a0000c0005 | a0000c0005t0005 | a0000c0005t0005g0101 | 1 | 386 | 0.0026 | 23 | c.595 others(40): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
CEP97_chr3_101719614_101775562 | 101723139 | T | TATATATA others(16): Show |
upstream_gene_variant | MODIFIER | NA18959.hp2 NA18964.hp2 NA18974.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0073a0001c0001t0004g0082a0001c0001t0004g0086others(4): Show | 7 | 352 | 0.0199 | 23 | c.-15 others(34): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 1474 | chr3 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181537418 | T | TCAACTTA others(16): Show |
3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG01109.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0261a0001c0001t0015g0270 | 2 | 298 | 0.0067 | 23 | c.*74 others(32): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 13/13 | 765 | chr2 | TogoVar | |||||
CERS4_chr19_8204370_8267421 | 8210022 | C | CCAGGAAA others(16): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(136): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(24): Show | a0001c0001t0001g0117a0001c0001t0001g0407a0001c0001t0001g0408others(136): Show | 139 | 418 | 0.3325 | 23 | c.-15 others(40): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CERS4_chr19_8204370_8267421 | 8245127 | A | ACAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02717.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008 | a0001c0001t0007g0121a0001c0001t0008g0390a0001c0001t0008g0398 | 3 | 418 | 0.0072 | 23 | c.-1- others(38): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8266863 | C | CAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | HG01258.hp2 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0295a0001c0001t0002g0296 | 2 | 418 | 0.0048 | 23 | c.*47 others(34): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4443 | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8267294 | C | CAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | HG02698.hp1 HG03041.hp2 HG03704.hp2 |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0002a0003c0007t0004a0003c0007t0009 | a0001c0001t0002g0296a0003c0007t0004g0317a0003c0007t0009g0120 | 3 | 418 | 0.0072 | 23 | c.*51 others(34): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4874 | chr19 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50148925 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0283 | 1 | 320 | 0.0031 | 23 | c.198 others(40): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50148927 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0282 | 1 | 320 | 0.0031 | 23 | c.198 others(40): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168528650 | G | GAGGAATT others(16): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp1 others(138): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0019a0001c0001t0001g0025a0001c0001t0001g0027others(138): Show | 141 | 176 | 0.8011 | 23 | c.171 others(42): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168528650 | G | GAGGACTT others(16): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 176 | 0.0057 | 23 | c.171 others(42): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERT1_chr5_75372775_75516629 | 75393602 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01109.hp1 HG01255.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0312a0001c0001t0002g0163a0001c0001t0002g0166others(21): Show | 24 | 336 | 0.0714 | 23 | c.118 others(42): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 11/16 | chr5 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75393602 | T | TTAAAAAA others(16): Show |
intron_variant | MODIFIER | NA19079.hp2 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0204a0001c0001t0002g0210 | 2 | 336 | 0.0060 | 23 | c.118 others(42): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 11/16 | chr5 | TogoVar | ||||||
CES5A_chr16_55841154_55880373 | 55866658 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00733.hp2 HG01192.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0005a0001c0002t0003a0002c0003t0001others(6): Show | a0001c0001t0005g0194a0001c0002t0003g0078a0002c0003t0001g0309others(7): Show | 10 | 449 | 0.0223 | 23 | c.552 others(38): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 4/12 | chr16 | TogoVar | ||||||
CFAP157_chr9_127701988_127721002 | 127719798 | C | CAGCTATC others(16): Show |
downstream_gene_variant | MODIFIER | NA18977.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0041 | 1 | 354 | 0.0028 | 23 | c.*58 others(34): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 3797 | chr9 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169653029 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0115 | 1 | 390 | 0.0026 | 23 | c.959 others(40): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169653029 | A | AAAAATAT others(16): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0114 | 1 | 390 | 0.0026 | 23 | c.959 others(40): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar |