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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHTF8_chr16_69113010_69137588 | 69132555 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0205 | 1 | 364 | 0.0028 | 0 | c.-10 others(4): Show |
CHTF8 | ENSG00000168802.14 | transcript | ENST00000448552.7 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
CIAPIN1_chr16_57423187_57452385 | 57447375 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0205 | 1 | 390 | 0.0026 | 0 | c.-89 others(3): Show |
CIAPIN1 | ENSG00000005194.15 | transcript | ENST00000394391.9 | protein_coding | 1/9 | chr16 | TogoVar | ||||||
CIART_chr1_150277554_150292093 | 150282796 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0011 | 1 | 416 | 0.0024 | 0 | c.-47 others(4): Show |
CIART | ENSG00000159208.16 | transcript | ENST00000290363.6 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
CIART_chr1_150277554_150292093 | 150282843 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0003 | 1 | 416 | 0.0024 | 0 | c.-42 others(4): Show |
CIART | ENSG00000159208.16 | transcript | ENST00000290363.6 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
CIART_chr1_150277554_150292093 | 150283101 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02486.hp1 HG03098.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0023a0001c0001t0007g0042 | 4 | 416 | 0.0096 | 0 | c.-16 others(4): Show |
CIART | ENSG00000159208.16 | transcript | ENST00000290363.6 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
CIBAR1_chr8_93695550_93736527 | 93700568 | T | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00609.hp2 NA19067.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0138a0001c0001t0008g0139 | 2 | 374 | 0.0054 | 0 | c.-80 others(3): Show |
CIBAR1 | ENSG00000188343.14 | transcript | ENST00000518322.6 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
CIBAR1_chr8_93695550_93736527 | 93700594 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0097 | 1 | 374 | 0.0027 | 0 | c.-54 others(3): Show |
CIBAR1 | ENSG00000188343.14 | transcript | ENST00000518322.6 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
CIBAR2_chr16_85093358_85117472 | 85112431 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0215 | 1 | 436 | 0.0023 | 0 | c.-79 others(3): Show |
CIBAR2 | ENSG00000153789.14 | transcript | ENST00000539556.6 | protein_coding | 1/9 | chr16 | TogoVar | ||||||
CILK1_chr6_52996303_53066824 | 53061651 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19063.hp1 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0174 | 1 | 244 | 0.0041 | 0 | c.-22 others(4): Show |
CILK1 | ENSG00000112144.16 | transcript | ENST00000676107.1 | protein_coding | 1/14 | chr6 | TogoVar | ||||||
CIPC_chr14_77093258_77122287 | 77098285 | A | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02809.hp1 | a0002 | a0002c0003 | a0002c0003t0038 | a0002c0003t0038g0035 | 1 | 426 | 0.0024 | 0 | c.-12 others(4): Show |
CIPC | ENSG00000198894.8 | transcript | ENST00000361786.7 | protein_coding | 1/4 | chr14 | TogoVar | ||||||
CISD1_chr10_58264162_58294586 | 58269175 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01243.hp1 HG02055.hp2 HG02109.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044a0001c0001t0003g0045a0001c0001t0003g0117others(12): Show | 17 | 386 | 0.0440 | 0 | c.-99 others(3): Show |
CISD1 | ENSG00000122873.12 | transcript | ENST00000333926.6 | protein_coding | 1/3 | chr10 | TogoVar | ||||||
CISD2_chr4_102863992_102897807 | 102869029 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(233): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(43): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0005others(124): Show | 236 | 354 | 0.6667 | 0 | c.-56 others(3): Show |
CISD2 | ENSG00000145354.12 | transcript | ENST00000273986.10 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
CITED2_chr6_139366807_139379648 | 139374451 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0038 | 1 | 322 | 0.0031 | 0 | c.-47 others(3): Show |
CITED2 | ENSG00000164442.11 | transcript | ENST00000367651.4 | protein_coding | 1/2 | chr6 | TogoVar | ||||||
CITED2_chr6_139366807_139379648 | 139374613 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0039 | 1 | 322 | 0.0031 | 0 | c.-20 others(4): Show |
CITED2 | ENSG00000164442.11 | transcript | ENST00000367651.4 | protein_coding | 1/2 | chr6 | TogoVar | ||||||
CITED4_chr1_40856054_40867363 | 40862220 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03942.hp1 HG04184.hp1 |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0000 | 2 | 440 | 0.0046 | 0 | c.-93 others(3): Show |
CITED4 | ENSG00000179862.7 | transcript | ENST00000372638.4 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119877256 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0233 | 1 | 236 | 0.0042 | 0 | c.-21 others(3): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 1/48 | chr12 | TogoVar | ||||||
CKS1B_chr1_154969681_154984251 | 154974683 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01433.hp1 HG02109.hp1 HG02895.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 4 | 292 | 0.0137 | 0 | c.-63 others(3): Show |
CKS1B | ENSG00000173207.13 | transcript | ENST00000308987.6 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
CKS1B_chr1_154969681_154984251 | 154974737 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01891.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0013a0001c0001t0006g0013 | 2 | 292 | 0.0069 | 0 | c.-9C others(2): Show |
CKS1B | ENSG00000173207.13 | transcript | ENST00000308987.6 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
CKS2_chr9_89306195_89321703 | 89311204 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0001 | 1 | 440 | 0.0023 | 0 | c.-89 others(3): Show |
CKS2 | ENSG00000123975.5 | transcript | ENST00000314355.7 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
CLASP2_chr3_33491245_33723254 | 33718067 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0271 | 1 | 278 | 0.0036 | 0 | c.-65 others(3): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 1/39 | chr3 | TogoVar | ||||||
CLBA1_chr14_104980788_105000516 | 104985809 | A | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03688.hp2 | a0009 | a0009c0010 | a0009c0010t0026 | a0009c0010t0026g0001 | 1 | 444 | 0.0023 | 0 | c.-62 others(4): Show |
CLBA1 | ENSG00000140104.14 | transcript | ENST00000547315.6 | protein_coding | 1/5 | chr14 | TogoVar | ||||||
CLBA1_chr14_104980788_105000516 | 104986298 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01069.hp1 | a0008 | a0008c0007 | a0008c0007t0019 | a0008c0007t0019g0004 | 1 | 444 | 0.0023 | 0 | c.-13 others(4): Show |
CLBA1 | ENSG00000140104.14 | transcript | ENST00000547315.6 | protein_coding | 1/5 | chr14 | TogoVar | ||||||
CLCN1_chr7_143311111_143357083 | 143316192 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp1 HG00323.hp2 HG00639.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0003a0001c0003t0003a0002c0002t0003 | a0001c0001t0003g0071a0001c0001t0003g0148a0001c0001t0003g0155others(4): Show | 7 | 414 | 0.0169 | 0 | c.-21 others(3): Show |
CLCN1 | ENSG00000188037.14 | transcript | ENST00000343257.7 | protein_coding | 1/23 | chr7 | TogoVar | ||||||
CLCN3_chr4_169615578_169728673 | 169620632 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02809.hp2 HG02896.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0052a0001c0002t0051 | a0001c0001t0052g0030a0001c0002t0051g0031 | 2 | 288 | 0.0069 | 0 | c.-44 others(4): Show |
CLCN3 | ENSG00000109572.16 | transcript | ENST00000513761.6 | protein_coding | 1/13 | chr4 | TogoVar | ||||||
CLCN7_chr16_1439935_1480028 | 1474994 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01109.hp2 HG01884.hp1 HG01891.hp1 others(9): Show |
a0001a0002a0004 | a0001c0004a0001c0015a0002c0012others(1): Show | a0001c0004t0006a0001c0015t0028a0002c0012t0014others(1): Show | a0001c0004t0006g0018a0001c0004t0006g0019a0001c0004t0006g0020others(9): Show | 12 | 404 | 0.0297 | 0 | c.-20 others(3): Show |
CLCN7 | ENSG00000103249.19 | transcript | ENST00000382745.9 | protein_coding | 1/25 | chr16 | TogoVar | ||||||
CLDN14_chr21_36455621_36485122 | 36479544 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02258.hp2 HG02647.hp1 HG02723.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0021a0001c0002t0004g0050 | 4 | 424 | 0.0094 | 0 | c.-13 others(4): Show |
CLDN14 | ENSG00000159261.12 | transcript | ENST00000399135.6 | protein_coding | 1/2 | chr21 | TogoVar | ||||||
CLDN14_chr21_36455621_36485122 | 36479655 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0053 | 1 | 424 | 0.0024 | 0 | c.-24 others(4): Show |
CLDN14 | ENSG00000159261.12 | transcript | ENST00000399135.6 | protein_coding | 1/2 | chr21 | TogoVar | ||||||
CLDN14_chr21_36455621_36485122 | 36479945 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19086.hp1 | a0002 | a0002c0003 | a0002c0003t0017 | a0002c0003t0017g0172 | 1 | 424 | 0.0024 | 0 | c.-53 others(4): Show |
CLDN14 | ENSG00000159261.12 | transcript | ENST00000399135.6 | protein_coding | 1/2 | chr21 | TogoVar | ||||||
CLDN20_chr6_155259013_155281548 | 155264144 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp2 HG00280.hp1 HG00423.hp1 others(271): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0011others(76): Show | 274 | 384 | 0.7135 | 0 | c.-24 others(4): Show |
CLDN20 | ENSG00000171217.5 | transcript | ENST00000367165.3 | protein_coding | 1/2 | chr6 | TogoVar | ||||||
CLDN23_chr8_8696937_8709096 | 8702153 | A | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(143): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0005others(4): Show | a0001c0001t0021a0002c0002t0002a0002c0002t0004others(7): Show | a0001c0001t0021g0000a0002c0002t0002g0000a0002c0002t0004g0000others(7): Show | 146 | 438 | 0.3333 | 0 | c.-24 others(4): Show |
CLDN23 | ENSG00000253958.2 | transcript | ENST00000519106.2 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
CLDN6_chr16_3009712_3023183 | 3016025 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01884.hp2 HG02486.hp2 HG03209.hp1 |
a0001 | a0001c0003 | a0001c0003t0007a0001c0003t0010 | a0001c0003t0007g0022a0001c0003t0010g0042 | 3 | 424 | 0.0071 | 0 | c.-4C others(2): Show |
CLDN6 | ENSG00000184697.7 | transcript | ENST00000328796.5 | protein_coding | 2/2 | chr16 | TogoVar | ||||||
CLDN9_chr16_3007923_3019505 | 3013017 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0000 | 1 | 428 | 0.0023 | 0 | c.-34 others(4): Show |
CLDN9 | ENSG00000213937.4 | transcript | ENST00000445369.3 | protein_coding | 1/1 | chr16 | TogoVar | ||||||
CLDN9_chr16_3007923_3019505 | 3013148 | T | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(157): Show |
a0000a0001a0005 | a0000c0002a0001c0001a0001c0003others(3): Show | a0000c0002t0002a0000c0002t0003a0001c0001t0002others(7): Show | a0000c0002t0002g0000a0000c0002t0003g0000a0001c0001t0002g0000others(7): Show | 160 | 428 | 0.3738 | 0 | c.-21 others(4): Show |
CLDN9 | ENSG00000213937.4 | transcript | ENST00000445369.3 | protein_coding | 1/1 | chr16 | TogoVar | ||||||
CLDND2_chr19_51362098_51374003 | 51368596 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0030 | 1 | 440 | 0.0023 | 0 | c.-19 others(3): Show |
CLDND2 | ENSG00000160318.6 | transcript | ENST00000291715.5 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
CLEC10A_chr17_7069537_7085251 | 7078865 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0131 | 1 | 458 | 0.0022 | 0 | c.-53 others(3): Show |
CLEC10A | ENSG00000132514.14 | transcript | ENST00000416562.7 | protein_coding | 2/9 | chr17 | TogoVar | ||||||
CLEC16A_chr16_10939564_11187186 | 10944648 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18612.hp2 | a0001 | a0001c0002 | a0001c0002t0036 | a0001c0002t0036g0261 | 1 | 274 | 0.0037 | 0 | c.-70 others(3): Show |
CLEC16A | ENSG00000038532.17 | transcript | ENST00000409790.6 | protein_coding | 1/24 | chr16 | TogoVar | ||||||
CLEC16A_chr16_10939564_11187186 | 10944701 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0182 | 1 | 274 | 0.0037 | 0 | c.-17 others(3): Show |
CLEC16A | ENSG00000038532.17 | transcript | ENST00000409790.6 | protein_coding | 1/24 | chr16 | TogoVar | ||||||
CLEC18B_chr16_74403631_74426478 | 74421446 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG04199.hp2 | a0001 | a0001c0015 | a0001c0015t0011 | a0001c0015t0011g0151 | 1 | 287 | 0.0035 | 0 | c.-17 others(4): Show |
CLEC18B | ENSG00000140839.13 | transcript | ENST00000682950.1 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
CLEC18C_chr16_70168787_70191895 | 70173840 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00639.hp2 | a0015 | a0015c0020 | a0015c0020t0022 | a0015c0020t0022g0181 | 1 | 355 | 0.0028 | 0 | c.-21 others(4): Show |
CLEC18C | ENSG00000157335.21 | transcript | ENST00000541793.7 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
CLEC1A_chr12_10064554_10103985 | 10098943 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0329 | 1 | 384 | 0.0026 | 0 | c.-21 others(3): Show |
CLEC1A | ENSG00000150048.10 | transcript | ENST00000315330.8 | protein_coding | 1/6 | chr12 | TogoVar | ||||||
CLEC1A_chr12_10064554_10103985 | 10098958 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02647.hp1 | a0001 | a0001c0004 | a0001c0004t0014 | a0001c0004t0014g0330 | 1 | 384 | 0.0026 | 0 | c.-36 others(3): Show |
CLEC1A | ENSG00000150048.10 | transcript | ENST00000315330.8 | protein_coding | 1/6 | chr12 | TogoVar | ||||||
CLEC4A_chr12_8118617_8143607 | 8123836 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(385): Show |
a0000a0001a0002others(4): Show | a0000c0011a0001c0001a0001c0009others(6): Show | a0000c0011t0009a0001c0001t0001a0001c0001t0002others(19): Show | a0000c0011t0009g0067a0001c0001t0001g0004a0001c0001t0001g0005others(275): Show | 388 | 458 | 0.8472 | 0 | c.-43 others(3): Show |
CLEC4A | ENSG00000111729.15 | transcript | ENST00000229332.12 | protein_coding | 1/6 | chr12 | TogoVar | ||||||
CLEC6A_chr12_8450962_8483330 | 8455987 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(268): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(96): Show | 271 | 334 | 0.8114 | 0 | c.-12 others(4): Show |
CLEC6A | ENSG00000205846.4 | transcript | ENST00000382073.4 | protein_coding | 1/6 | chr12 | TogoVar | ||||||
CLEC9A_chr12_10025682_10071031 | 10041518 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009 | 1 | 406 | 0.0025 | 0 | c.-26 others(4): Show |
CLEC9A | ENSG00000197992.7 | transcript | ENST00000355819.6 | protein_coding | 2/9 | chr12 | TogoVar | ||||||
CLIC2_chrX_155271211_155339614 | 155334554 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01069.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0236a0001c0001t0008g0237 | 2 | 258 | 0.0078 | 0 | c.-12 others(4): Show |
CLIC2 | ENSG00000155962.13 | transcript | ENST00000369449.7 | protein_coding | 1/6 | chrX | TogoVar | ||||||
CLIC6_chr21_34663994_34723223 | 34669257 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02129.hp2 | a0002 | a0002c0024 | a0002c0024t0037 | a0002c0024t0037g0281 | 1 | 312 | 0.0032 | 0 | c.-13 others(4): Show |
CLIC6 | ENSG00000159212.13 | transcript | ENST00000349499.3 | protein_coding | 1/6 | chr21 | TogoVar | ||||||
CLK1_chr2_200848009_200869658 | 200864612 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01884.hp1 HG01884.hp2 HG02280.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0056a0001c0001t0003g0059a0001c0001t0003g0060others(10): Show | 13 | 418 | 0.0311 | 0 | c.-49 others(3): Show |
CLK1 | ENSG00000013441.17 | transcript | ENST00000321356.9 | protein_coding | 1/13 | chr2 | TogoVar | ||||||
CLOCK_chr4_55422903_55551909 | 55489419 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02055.hp2 HG02622.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0053a0001c0001t0054 | a0001c0001t0011g0317a0001c0001t0011g0318a0001c0001t0011g0319others(4): Show | 7 | 338 | 0.0207 | 0 | c.-89 others(3): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 3/23 | chr4 | TogoVar | ||||||
CLRN3_chr10_127872841_127897941 | 127892807 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18951.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0067 | 2 | 456 | 0.0044 | 0 | c.-23 others(3): Show |
CLRN3 | ENSG00000180745.5 | transcript | ENST00000368671.4 | protein_coding | 1/3 | chr10 | TogoVar | ||||||
CLRN3_chr10_127872841_127897941 | 127892914 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18522.hp2 NA19030.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0070a0001c0001t0004g0071a0001c0001t0008g0069 | 3 | 456 | 0.0066 | 0 | c.-13 others(4): Show |
CLRN3 | ENSG00000180745.5 | transcript | ENST00000368671.4 | protein_coding | 1/3 | chr10 | TogoVar |