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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHRNB3_chr8_42692366_42742407 | 42721722 | C | CAAACA | intron_variant | MODIFIER | HG01074.hp2 HG01891.hp2 HG02004.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0004 | a0001c0001t0001g0039 a0001c0001t0001g0075 a0001c0001t0001g0076 others(8): Show |
11 | 69 | 0.1594 | 5 | c.250 others(22): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHRNB4_chr15_78619111_78646210 | 78632153 | C | CTTCCT | intron_variant | MODIFIER | HG00423.hp2 HG02083.hp2 HG02723.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0006t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0126 a0001c0006t0002g0117 a0002c0002t0001g0042 others(7): Show |
11 | 414 | 0.0266 | 5 | c.205 others(20): Show |
CHRNB4 | ENSG00000117971.12 | transcript | ENST00000261751.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
CHRNE_chr17_4892771_4908098 | 4907590 | A | AAAAAT | upstream_gene_variant | MODIFIER | HG00609.hp2 HG01069.hp1 HG01074.hp2 others(26): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0003c0010others(1): Show | a0001c0001t0016a0001c0001t0034a0001c0001t0062others(5): Show | a0001c0001t0016g0022 a0001c0001t0034g0040 a0001c0001t0062g0110 others(8): Show |
29 | 431 | 0.0673 | 5 | c.-45 others(16): Show |
CHRNE | ENSG00000108556.10 | transcript | ENST00000649488.2 | protein_coding | 4493 | chr17 | TogoVar | |||||||
CHRNG_chr2_232534692_232553115 | 232551228 | T | TTGCTG | downstream_gene_variant | MODIFIER | HG00673.hp1 HG01123.hp1 HG01891.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0003a0002c0003t0004 | a0001c0001t0001g0002 a0001c0001t0001g0067 a0001c0002t0003g0006 others(7): Show |
23 | 431 | 0.0534 | 5 | c.*55 others(16): Show |
CHRNG | ENSG00000196811.13 | transcript | ENST00000651502.1 | protein_coding | 3114 | chr2 | TogoVar | |||||||
CHST11_chr12_104451948_104767014 | 104513123 | T | TGGTGG | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00558.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0019 others(34): Show |
37 | 93 | 0.3978 | 5 | c.118 others(24): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHST11_chr12_104451948_104767014 | 104513123 | T | TTGGGG | intron_variant | MODIFIER | HG02976.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0055 | a0001c0001t0022g0185 a0001c0001t0055g0219 |
2 | 58 | 0.0345 | 5 | c.118 others(24): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | chr12 | TogoVar | |||||||
CHST11_chr12_104451948_104767014 | 104544768 | G | GCCCCC | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG01243.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0120 a0001c0001t0001g0234 a0001c0001t0003g0075 others(11): Show |
14 | 227 | 0.0617 | 5 | c.119 others(24): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | chr12 | TogoVar | |||||||
CHST11_chr12_104451948_104767014 | 104559756 | T | TAAATA | intron_variant | MODIFIER | HG01167.hp2 HG02818.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0066 | a0001c0001t0002g0098 a0001c0001t0003g0218 a0001c0001t0066g0055 |
3 | 238 | 0.0126 | 5 | c.119 others(24): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHST11_chr12_104451948_104767014 | 104584678 | T | TTTAAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(212): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(64): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0018 others(212): Show |
215 | 237 | 0.9072 | 5 | c.119 others(24): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHST11_chr12_104451948_104767014 | 104684534 | A | ATGGTT | intron_variant | MODIFIER | HG01361.hp2 HG02074.hp1 NA18964.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0016a0001c0001t0034others(1): Show | a0001c0001t0005g0165 a0001c0001t0016g0240 a0001c0001t0034g0170 others(1): Show |
4 | 238 | 0.0168 | 5 | c.205 others(24): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHST11_chr12_104451948_104767014 | 104748594 | C | CGGCTT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00544.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0012others(16): Show | a0001c0001t0004g0011 a0001c0001t0004g0028 a0001c0001t0004g0065 others(32): Show |
35 | 238 | 0.1471 | 5 | c.205 others(22): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHST12_chr7_2398611_2453484 | 2399139 | A | ATTTAT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(325): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0006a0001c0009others(11): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(281): Show | a0001c0001t0003g0002 a0001c0001t0003g0128 a0001c0001t0003g0137 others(318): Show |
328 | 342 | 0.9591 | 5 | c.-46 others(16): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 4471 | chr7 | TogoVar | |||||||
CHST12_chr7_2398611_2453484 | 2422850 | T | TAAGAA | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02896.hp1 others(5): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0196a0001c0001t0273a0001c0001t0275others(5): Show | a0001c0001t0196g0109 a0001c0001t0273g0106 a0001c0001t0275g0108 others(5): Show |
8 | 342 | 0.0234 | 5 | c.-77 others(22): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/1 | chr7 | TogoVar | |||||||
CHST12_chr7_2398611_2453484 | 2432141 | C | CAAAAA | intron_variant | MODIFIER | HG02135.hp1 HG03453.hp2 NA18999.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0062a0001c0001t0112a0001c0001t0126others(3): Show | a0001c0001t0062g0145 a0001c0001t0112g0176 a0001c0001t0126g0234 others(3): Show |
6 | 42 | 0.1429 | 5 | c.-77 others(20): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHST12_chr7_2398611_2453484 | 2434579 | T | TAAAAA | 3_prime_UTR_variant | MODIFIER | HG00609.hp1 HG00642.hp1 HG00733.hp1 others(32): Show |
a0001a0003a0010 | a0001c0001a0003c0003a0010c0011 | a0001c0001t0014a0001c0001t0070a0001c0001t0071others(29): Show | a0001c0001t0014g0181 a0001c0001t0014g0265 a0001c0001t0070g0017 others(31): Show |
35 | 49 | 0.7143 | 5 | c.*72 others(14): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 2/2 | 733 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHST13_chr3_126519155_126548291 | 126520847 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG01433.hp1 HG01516.hp2 HG02083.hp2 others(11): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0003 | a0001c0001t0001a0002c0002t0001a0004c0003t0002 | a0001c0001t0001g0080 a0002c0002t0001g0002 a0002c0002t0001g0008 others(6): Show |
14 | 142 | 0.0986 | 5 | c.-34 others(16): Show |
CHST13 | ENSG00000180767.11 | transcript | ENST00000319340.7 | protein_coding | 3307 | chr3 | TogoVar | |||||||
CHST15_chr10_124002668_124098598 | 124045119 | A | AAAAAC | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00621.hp1 others(93): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0040 others(89): Show |
96 | 388 | 0.2474 | 5 | c.547 others(20): Show |
CHST15 | ENSG00000182022.18 | transcript | ENST00000435907.6 | protein_coding | 2/7 | chr10 | TogoVar | |||||||
CHST15_chr10_124002668_124098598 | 124045120 | A | AAAAAC | intron_variant | MODIFIER | HG02258.hp2 HG03516.hp2 HG03927.hp2 others(6): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0005a0001c0001t0021others(2): Show | a0001c0001t0001g0211 a0001c0001t0001g0238 a0001c0001t0001g0297 others(6): Show |
9 | 348 | 0.0259 | 5 | c.547 others(20): Show |
CHST15 | ENSG00000182022.18 | transcript | ENST00000435907.6 | protein_coding | 2/7 | chr10 | TogoVar | |||||||
CHST15_chr10_124002668_124098598 | 124045121 | A | AAAAAC | intron_variant | MODIFIER | HG00558.hp2 HG01361.hp1 HG02040.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0071 a0001c0001t0001g0295 a0001c0001t0001g0299 others(5): Show |
8 | 292 | 0.0274 | 5 | c.547 others(20): Show |
CHST15 | ENSG00000182022.18 | transcript | ENST00000435907.6 | protein_coding | 2/7 | chr10 | TogoVar | |||||||
CHST3_chr10_71959395_72018558 | 71987714 | C | CAAAAA | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01106.hp2 others(48): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0063 a0001c0001t0003g0216 a0001c0001t0003g0221 others(40): Show |
51 | 185 | 0.2757 | 5 | c.-10 others(26): Show |
CHST3 | ENSG00000122863.6 | transcript | ENST00000373115.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CHST3_chr10_71959395_72018558 | 71996913 | T | TTTTTG | intron_variant | MODIFIER | HG02630.hp1 HG02723.hp1 HG02895.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0008 | a0001c0001t0025a0001c0010t0014a0002c0008t0027 | a0001c0001t0025g0280 a0001c0001t0025g0317 a0001c0010t0014g0279 others(2): Show |
5 | 369 | 0.0136 | 5 | c.-10 others(24): Show |
CHST3 | ENSG00000122863.6 | transcript | ENST00000373115.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CHST3_chr10_71959395_72018558 | 72000524 | C | CCAGAG | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00558.hp2 others(75): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0015 a0001c0001t0001g0057 a0001c0001t0001g0090 others(68): Show |
78 | 370 | 0.2108 | 5 | c.-10 others(24): Show |
CHST3 | ENSG00000122863.6 | transcript | ENST00000373115.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CHST7_chrX_46568765_46603496 | 46578269 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(104): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(63): Show |
107 | 171 | 0.6257 | 5 | c.*31 others(22): Show |
CHST7 | ENSG00000147119.4 | transcript | ENST00000276055.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CHST7_chrX_46568765_46603496 | 46584535 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(195): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(114): Show |
198 | 265 | 0.7472 | 5 | c.*31 others(22): Show |
CHST7 | ENSG00000147119.4 | transcript | ENST00000276055.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CHST7_chrX_46568765_46603496 | 46598694 | T | TATCTA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG01106.hp1 HG01109.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0109 |
6 | 306 | 0.0196 | 5 | c.*96 others(14): Show |
CHST7 | ENSG00000147119.4 | transcript | ENST00000276055.4 | protein_coding | 199 | chrX | TogoVar | |||||||
CHST8_chr19_33616953_33778506 | 33648902 | C | CTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01884.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0039 others(15): Show |
18 | 20 | 0.9000 | 5 | c.-16 others(26): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 26972534 | C | CAAGGA | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(84): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0038 others(84): Show |
87 | 260 | 0.3346 | 5 | c.203 others(24): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
CHST9_chr18_26901481_27190308 | 27019689 | C | CAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG02109.hp2 HG02451.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0001t0006a0001c0001t0032others(2): Show | a0001c0001t0004g0200 a0001c0001t0006g0177 a0001c0001t0006g0208 others(3): Show |
6 | 110 | 0.0545 | 5 | c.202 others(22): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
CHST9_chr18_26901481_27190308 | 27080936 | G | GAAGTA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(145): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0038 others(145): Show |
148 | 260 | 0.5692 | 5 | c.122 others(24): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | |||||||
CHST9_chr18_26901481_27190308 | 27084653 | T | TTCAGC | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0003g0057 a0001c0001t0003g0076 a0001c0001t0003g0244 others(11): Show |
14 | 260 | 0.0538 | 5 | c.122 others(24): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | |||||||
CHSY1_chr15_101170727_101257048 | 101186147 | C | CAAAAA | intron_variant | MODIFIER | HG02071.hp1 HG02132.hp2 HG02165.hp1 others(8): Show |
a0001a0003 | a0001c0008a0003c0006 | a0001c0008t0010a0001c0008t0038a0001c0008t0043others(2): Show | a0001c0008t0010g0197 a0001c0008t0010g0198 a0001c0008t0010g0200 others(8): Show |
11 | 326 | 0.0337 | 5 | c.817 others(22): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2/2 | chr15 | TogoVar | |||||||
CHSY1_chr15_101170727_101257048 | 101249510 | A | ATTTTT | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02970.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0018a0001c0003t0027a0001c0005t0001others(2): Show | a0001c0001t0018g0221 a0001c0001t0018g0222 a0001c0003t0027g0218 others(3): Show |
6 | 208 | 0.0288 | 5 | c.320 others(22): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
CHSY3_chr5_129899465_130191634 | 130035886 | G | GTTTTT | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp2 HG02622.hp2 others(4): Show |
a0002a0004a0006 | a0002c0003a0002c0007a0004c0009others(1): Show | a0002c0003t0005a0002c0007t0009a0004c0009t0004others(1): Show | a0002c0003t0005g0125 a0002c0003t0005g0126 a0002c0003t0005g0127 others(4): Show |
7 | 184 | 0.0380 | 5 | c.108 others(28): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130162057 | A | AAAAAG | intron_variant | MODIFIER | HG00642.hp1 HG02280.hp2 HG02300.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0002a0001c0002t0001a0002c0003t0002others(3): Show | a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0214 others(7): Show |
10 | 18 | 0.5556 | 5 | c.108 others(26): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130178253 | A | ATATAT | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00621.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0231 a0001c0001t0002g0131 a0001c0001t0002g0182 others(5): Show |
8 | 83 | 0.0964 | 5 | c.108 others(24): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130178254 | T | TATATA | intron_variant | MODIFIER | HG01884.hp2 HG02572.hp2 HG02886.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0002a0001c0002t0001a0002c0005t0001others(2): Show | a0001c0001t0002g0207 a0001c0002t0001g0087 a0002c0005t0001g0010 others(3): Show |
6 | 272 | 0.0221 | 5 | c.108 others(24): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | chr5 | TogoVar | |||||||
CHTF18_chr16_783620_803074 | 793084 | C | CGGGTG | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00609.hp1 others(73): Show |
a0002a0015a0016others(6): Show | a0002c0002a0002c0040a0002c0075others(10): Show | a0002c0002t0001a0002c0040t0001a0002c0075t0001others(10): Show | a0002c0002t0001g0001 a0002c0002t0001g0018 a0002c0002t0001g0025 others(27): Show |
76 | 423 | 0.1797 | 5 | c.167 others(20): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHURC1_chr14_64909455_64940368 | 64925696 | C | CAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00621.hp2 others(54): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0013 a0001c0001t0001g0038 a0001c0001t0001g0039 others(35): Show |
57 | 161 | 0.3540 | 5 | c.176 others(20): Show |
CHURC1 | ENSG00000258289.10 | transcript | ENST00000549115.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CHURC1_chr14_64909455_64940368 | 64927718 | C | CCCCCA | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00597.hp1 others(113): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0003g0011 others(73): Show |
116 | 390 | 0.2974 | 5 | c.246 others(22): Show |
CHURC1 | ENSG00000258289.10 | transcript | ENST00000549115.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CIAO2A_chr15_64067565_64098838 | 64077297 | C | CAACAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(141): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(82): Show |
144 | 322 | 0.4472 | 5 | c.340 others(22): Show |
CIAO2A | ENSG00000166797.11 | transcript | ENST00000300030.8 | protein_coding | 3/4 | chr15 | TogoVar | |||||||
CIAO2A_chr15_64067565_64098838 | 64089452 | T | TTGCGG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(321): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(188): Show |
324 | 336 | 0.9643 | 5 | c.125 others(20): Show |
CIAO2A | ENSG00000166797.11 | transcript | ENST00000300030.8 | protein_coding | 1/4 | chr15 | TogoVar | |||||||
CIART_chr1_150277554_150292093 | 150286104 | C | CTTCTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(298): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(31): Show |
301 | 414 | 0.7271 | 5 | c.634 others(20): Show |
CIART | ENSG00000159208.16 | transcript | ENST00000290363.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CIART_chr1_150277554_150292093 | 150289968 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01255.hp1 HG01257.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0003g0014 others(4): Show |
16 | 125 | 0.1280 | 5 | c.*30 others(16): Show |
CIART | ENSG00000159208.16 | transcript | ENST00000290363.6 | protein_coding | 2876 | chr1 | TogoVar | |||||||
CIB1_chr15_90224975_90238941 | 90238927 | A | AAAAAC | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02559.hp1 HG02717.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0039 others(1): Show |
11 | 458 | 0.0240 | 5 | c.-50 others(16): Show |
CIB1 | ENSG00000185043.13 | transcript | ENST00000328649.11 | protein_coding | 4987 | chr15 | TogoVar | |||||||
CIB2_chr15_78099606_78136445 | 78109807 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG01175.hp2 HG01243.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0239 a0001c0001t0001g0246 a0001c0001t0001g0283 others(9): Show |
13 | 216 | 0.0602 | 5 | c.199 others(20): Show |
CIB2 | ENSG00000136425.14 | transcript | ENST00000258930.8 | protein_coding | 3/5 | chr15 | TogoVar | |||||||
CIB3_chr19_16156368_16178525 | 16159387 | G | GAAAAA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00558.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0046 others(5): Show |
9 | 125 | 0.0720 | 5 | c.*20 others(16): Show |
CIB3 | ENSG00000141977.9 | transcript | ENST00000269878.8 | protein_coding | 1980 | chr19 | TogoVar | |||||||
CIB3_chr19_16156368_16178525 | 16175472 | A | ATTTTT | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG00621.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 others(13): Show |
20 | 78 | 0.2564 | 5 | c.-19 others(16): Show |
CIB3 | ENSG00000141977.9 | transcript | ENST00000269878.8 | protein_coding | 1948 | chr19 | TogoVar | |||||||
CIB4_chr2_26576205_26646366 | 26587304 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(128): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0024 others(126): Show |
131 | 142 | 0.9225 | 5 | c.329 others(22): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
CIB4_chr2_26576205_26646366 | 26601217 | C | CAAAAA | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01167.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0299 a0001c0001t0001g0319 a0002c0002t0002g0002 others(1): Show |
6 | 325 | 0.0185 | 5 | c.187 others(22): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
CIBAR1_chr8_93695550_93736527 | 93695813 | G | GAAAAA | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(26): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(16): Show |
29 | 147 | 0.1973 | 5 | c.-48 others(16): Show |
CIBAR1 | ENSG00000188343.14 | transcript | ENST00000518322.6 | protein_coding | 4736 | chr8 | TogoVar |