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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CELF5_chr19_3219661_3302076 | 3231533 | G | GTGGATGG others(25): Show |
intron_variant | MODIFIER | NA18966.hp2 NA18973.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0062 |
2 | 260 | 0.0077 | 32 | c.259 others(49): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3299553 | C | CTTCTTCT others(25): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 HG03471.hp1 HG03486.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0004a0001c0001t0005a0001c0002t0004others(1): Show | a0001c0001t0004g0010 a0001c0001t0004g0102 a0001c0001t0005g0009 others(4): Show |
7 | 233 | 0.0300 | 32 | c.*28 others(43): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2478 | chr19 | TogoVar | |||||||
CELF5_chr19_3219661_3302076 | 3299578 | T | TTCTTCTT others(25): Show |
downstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 243 | 0.0041 | 32 | c.*28 others(43): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2503 | chr19 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46500101 | A | ATCCTCCC others(25): Show |
intron_variant | MODIFIER | HG03579.hp1 NA18906.hp2 NA20805.hp1 |
a0001a0033a0039 | a0001c0002a0033c0065a0039c0061 | a0001c0002t0001a0033c0065t0002a0039c0061t0013 | a0001c0002t0001g0013 a0033c0065t0002g0103 a0039c0061t0013g0100 |
3 | 91 | 0.0330 | 32 | c.354 others(53): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71728258 | C | CACGTATA others(25): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03942.hp1 HG06807.hp1 |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0013a0001c0001t0018a0004c0003t0001 | a0001c0001t0013g0223 a0001c0001t0018g0226 a0004c0003t0001g0147 |
3 | 276 | 0.0109 | 32 | c.204 others(51): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 10/23 | chr9 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71728291 | A | ACGTATAT others(25): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0314 | 1 | 250 | 0.0040 | 32 | c.204 others(51): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 10/23 | chr9 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71728296 | T | TATGTATA others(25): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0318 | 1 | 297 | 0.0034 | 32 | c.204 others(51): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 10/23 | chr9 | TogoVar | |||||||
CEMIP_chr15_80774370_80956771 | 80937273 | C | CGAGGCTC others(25): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 252 | 0.0040 | 32 | c.322 others(49): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CEMP1_chr16_2525035_2536408 | 2533430 | A | ATTTTTTT others(25): Show |
upstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 13 | 0.0769 | 32 | c.-23 others(43): Show |
CEMP1 | ENSG00000205923.3 | transcript | ENST00000567119.1 | protein_coding | 2023 | chr16 | TogoVar | |||||||
CENPB_chr20_3778851_3791740 | 3788142 | A | AAAAGAAA others(25): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 112 | 0.0179 | 32 | c.-16 others(43): Show |
CENPB | ENSG00000125817.8 | transcript | ENST00000379751.5 | protein_coding | 1403 | chr20 | TogoVar | |||||||
CENPE_chr4_103100811_103203343 | 103132960 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02647.hp2 NA18990.hp1 others(1): Show |
a0002a0003a0007 | a0002c0002a0003c0003a0007c0010 | a0002c0002t0001a0003c0003t0001a0007c0010t0001 | a0002c0002t0001g0047 a0002c0002t0001g0056 a0003c0003t0001g0115 others(1): Show |
4 | 138 | 0.0290 | 32 | c.672 others(47): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 41/48 | chr4 | TogoVar | |||||||
CENPE_chr4_103100811_103203343 | 103173550 | C | CAATATTT others(25): Show |
intron_variant | MODIFIER | HG02970.hp1 NA18906.hp2 |
a0001a0016 | a0001c0004a0016c0017 | a0001c0004t0001a0016c0017t0001 | a0001c0004t0001g0288 a0016c0017t0001g0287 |
2 | 266 | 0.0075 | 32 | c.164 others(51): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 16/48 | chr4 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24882089 | T | TATAGATA others(25): Show |
downstream_gene_variant | MODIFIER | NA18971.hp1 NA18995.hp2 NA19005.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0134 others(1): Show |
4 | 193 | 0.0207 | 32 | c.*10 others(43): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 189 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24882090 | A | ATAGATAC others(25): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 1 | 375 | 0.0027 | 32 | c.*10 others(43): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 188 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24882151 | G | GATACATC others(25): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 HG03130.hp2 |
a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0063 a0002c0003t0009g0066 |
2 | 73 | 0.0274 | 32 | c.*10 others(43): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 127 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24882169 | G | GATACATC others(25): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0064 | 1 | 80 | 0.0125 | 32 | c.*10 others(43): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 109 | chr13 | TogoVar | |||||||
CENPM_chr22_41933737_41952152 | 41939886 | G | GAAAGAAA others(25): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0204 a0001c0001t0003g0205 |
2 | 246 | 0.0081 | 32 | c.403 others(47): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
CENPP_chr9_92320953_92625529 | 92352505 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01074.hp2 HG01081.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(1): Show | a0001c0001t0001g0142 a0001c0001t0001g0200 a0001c0001t0006g0127 others(3): Show |
6 | 137 | 0.0438 | 32 | c.467 others(49): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92352505 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0178 | 1 | 132 | 0.0076 | 32 | c.467 others(49): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92352505 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | NA19054.hp2 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0160 a0001c0001t0003g0169 |
2 | 133 | 0.0150 | 32 | c.467 others(49): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92352505 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | NA18942.hp1 NA18988.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0144 a0001c0001t0003g0174 |
2 | 133 | 0.0150 | 32 | c.467 others(49): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92352505 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0176 | 1 | 132 | 0.0076 | 32 | c.467 others(49): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92352510 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 74 | 0.0135 | 32 | c.467 others(49): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92533328 | A | AAAAAATA others(25): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 97 | 0.0103 | 32 | c.565 others(51): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65660177 | C | CTCCTTCC others(25): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0022 | 1 | 20 | 0.0500 | 32 | c.269 others(53): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 24/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65870014 | T | TAAGAAAG others(25): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0037 | 1 | 65 | 0.0154 | 32 | c.216 others(53): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 20/26 | chr17 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101938159 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02683.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0158 a0001c0001t0011g0180 |
2 | 150 | 0.0133 | 32 | c.249 others(49): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80754555 | T | TGGGTTCA others(25): Show |
intron_variant | MODIFIER | HG01891.hp1 HG06807.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0006g0157 |
3 | 162 | 0.0185 | 32 | c.261 others(51): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 18/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80754556 | G | GGGTTCAA others(25): Show |
intron_variant | MODIFIER | HG03139.hp2 NA19240.hp1 |
a0001 | a0001c0009 | a0001c0009t0006 | a0001c0009t0006g0153 a0001c0009t0006g0154 |
2 | 162 | 0.0123 | 32 | c.261 others(51): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 18/24 | chr14 | TogoVar | |||||||
CEP128_chr14_80491479_80946738 | 80811818 | T | TTAGATAG others(25): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0126 | 1 | 12 | 0.0833 | 32 | c.121 others(53): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | |||||||
CEP170B_chr14_104860268_104901747 | 104890848 | A | AATGAGTG others(25): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0020 | a0020c0040 | a0020c0040t0011 | a0020c0040t0011g0258 | 1 | 326 | 0.0031 | 32 | c.387 others(51): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CEP170_chr1_243119428_243260281 | 243159763 | T | TTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02818.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0056 others(2): Show |
5 | 83 | 0.0602 | 32 | c.367 others(51): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 13/19 | chr1 | TogoVar | |||||||
CEP295NL_chr17_78885579_78908201 | 78904091 | A | ATGTGTGT others(25): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 HG01516.hp1 HG01891.hp2 others(14): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0064 a0001c0001t0001g0131 a0001c0001t0001g0150 others(7): Show |
17 | 264 | 0.0644 | 32 | c.-10 others(43): Show |
CEP295NL | ENSG00000178404.11 | transcript | ENST00000322630.3 | protein_coding | 891 | chr17 | TogoVar | |||||||
CEP43_chr6_166994397_167057718 | 167042814 | T | TTGTGTGT others(25): Show |
3_prime_UTR_variant | MODIFIER | HG01993.hp1 NA18941.hp2 |
a0001 | a0001c0001 | a0001c0001t0148a0001c0001t0183 | a0001c0001t0148g0006 a0001c0001t0183g0142 |
2 | 14 | 0.1429 | 32 | c.*28 others(43): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 13/13 | 2862 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP44_chr4_174278911_174325328 | 174320696 | G | GTGTGTGT others(25): Show |
downstream_gene_variant | MODIFIER | HG02300.hp2 NA18986.hp2 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 |
3 | 386 | 0.0078 | 32 | c.*33 others(43): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 369 | chr4 | TogoVar | |||||||
CEP44_chr4_174278911_174325328 | 174320698 | G | GTGTGTGT others(25): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 260 | 0.0038 | 32 | c.*33 others(43): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 371 | chr4 | TogoVar | |||||||
CEP63_chr3_134481057_134570031 | 134538529 | G | GTGTATAT others(25): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0292 | 1 | 319 | 0.0031 | 32 | c.555 others(49): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEP63_chr3_134481057_134570031 | 134538531 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0282 | 1 | 28 | 0.0357 | 32 | c.555 others(49): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEP63_chr3_134481057_134570031 | 134538531 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp2 others(30): Show |
a0002 | a0002c0002a0002c0011 | a0002c0002t0001a0002c0002t0026a0002c0011t0001 | a0002c0002t0001g0002 a0002c0002t0001g0209 a0002c0002t0001g0215 others(28): Show |
33 | 60 | 0.5500 | 32 | c.555 others(49): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEP76_chr18_12667625_12707723 | 12669933 | G | GTTGCGGT others(25): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 130 | 0.0077 | 32 | c.*34 others(43): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 2691 | chr18 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GGGGGGGG others(25): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0231 | 1 | 117 | 0.0085 | 32 | c.232 others(51): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118651683 | C | CGGGGCGG others(25): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 NA18945.hp1 NA18979.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0005 | a0001c0001t0001g0164 a0001c0001t0004g0097 a0002c0002t0005g0276 |
3 | 243 | 0.0123 | 32 | c.-44 others(41): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 93 | chr6 | TogoVar | |||||||
CEP97_chr3_101719614_101775562 | 101723139 | T | TATATATA others(25): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0143 | 1 | 286 | 0.0035 | 32 | c.-15 others(43): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 1474 | chr3 | TogoVar | |||||||
CEP97_chr3_101719614_101775562 | 101723139 | T | TATATATA others(25): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp2 others(49): Show |
a0001a0011 | a0001c0001a0001c0008a0011c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0027 others(47): Show |
52 | 337 | 0.1543 | 32 | c.-15 others(43): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 1474 | chr3 | TogoVar | |||||||
CEPT1_chr1_111135223_111190104 | 111150376 | C | CTATTCTT others(25): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 408 | 0.0025 | 32 | c.339 others(49): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181578180 | G | GCATATAT others(25): Show |
intron_variant | MODIFIER | NA18957.hp2 NA18968.hp1 NA18986.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0003a0002c0003t0003 | a0001c0002t0003g0030 a0001c0002t0003g0031 a0001c0002t0003g0035 others(1): Show |
4 | 296 | 0.0135 | 32 | c.482 others(49): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181609533 | T | TAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01074.hp2 others(3): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0004a0002c0004t0002a0002c0004t0004 | a0002c0003t0004g0005 a0002c0004t0002g0191 a0002c0004t0004g0178 others(2): Show |
6 | 39 | 0.1538 | 32 | c.239 others(49): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181650079 | A | AAGGGAGG others(25): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0120 | 1 | 179 | 0.0056 | 32 | c.238 others(49): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100466840 | C | CCTCTCTC others(25): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02602.hp1 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0033 a0001c0001t0001g0183 a0001c0001t0002g0182 others(2): Show |
5 | 106 | 0.0472 | 32 | c.845 others(49): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100466841 | C | CTCTCTCC others(25): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01255.hp1 HG01256.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0003t0005others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0118 a0001c0001t0001g0135 others(23): Show |
26 | 202 | 0.1287 | 32 | c.845 others(49): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar |