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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDV3_chr3_133568686_133595261 | 133594433 | T | TAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0146 |
2 | 11 | 0.1818 | 27 | c.*63 others(38): Show |
CDV3 | ENSG00000091527.17 | transcript | ENST00000264993.8 | protein_coding | 4173 | chr3 | TogoVar | |||||||
CDYL2_chr16_80592907_80809598 | 80759118 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG03942.hp2 HG06807.hp2 NA19002.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0060a0001c0004t0009 | a0001c0001t0002g0020 a0001c0001t0060g0039 a0001c0004t0009g0038 |
3 | 246 | 0.0122 | 27 | c.24+ others(44): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
CEACAM19_chr19_44666482_44689355 | 44666952 | C | CTCCAGGG others(20): Show |
upstream_gene_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 388 | 0.0026 | 27 | c.-49 others(38): Show |
CEACAM19 | ENSG00000186567.14 | transcript | ENST00000358777.10 | protein_coding | 4529 | chr19 | TogoVar | |||||||
CEACAM19_chr19_44666482_44689355 | 44667786 | A | ATATATAT others(20): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 HG01361.hp1 NA18984.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0008 | a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0120 others(1): Show |
5 | 388 | 0.0129 | 27 | c.-41 others(38): Show |
CEACAM19 | ENSG00000186567.14 | transcript | ENST00000358777.10 | protein_coding | 3695 | chr19 | TogoVar | |||||||
CEACAM8_chr19_42575243_42599924 | 42581920 | A | AAAAATAT others(20): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 64 | 0.0156 | 27 | c.*41 others(42): Show |
CEACAM8 | ENSG00000124469.12 | transcript | ENST00000244336.10 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
CEACAM8_chr19_42575243_42599924 | 42581920 | A | AAATATAT others(20): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 2 | 65 | 0.0308 | 27 | c.*41 others(42): Show |
CEACAM8 | ENSG00000124469.12 | transcript | ENST00000244336.10 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
CEBPZOS_chr2_37191496_37209743 | 37193643 | A | AAGAAGAA others(20): Show |
upstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0009 | 1 | 456 | 0.0022 | 27 | c.-28 others(38): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 2852 | chr2 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17404364 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0014 | a0014c0021 | a0014c0021t0021 | a0014c0021t0021g0005 | 1 | 214 | 0.0047 | 27 | c.126 others(46): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17524387 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03453.hp1 HG03579.hp1 |
a0004a0013 | a0004c0004a0013c0026 | a0004c0004t0003a0004c0004t0022a0013c0026t0009 | a0004c0004t0003g0144 a0004c0004t0022g0284 a0013c0026t0009g0072 |
3 | 120 | 0.0250 | 27 | c.110 others(44): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11197025 | A | AAAGAAAG others(20): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0021 | 1 | 8 | 0.1250 | 27 | c.272 others(46): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11197026 | A | AAGGAAGG others(20): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02965.hp1 HG03579.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0001t0020a0001c0002t0009 | a0001c0001t0018g0047 a0001c0001t0020g0076 a0001c0002t0009g0148 |
3 | 186 | 0.0161 | 27 | c.272 others(46): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3299515 | C | CTCTTCTT others(20): Show |
downstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 60 | 0.0167 | 27 | c.*27 others(38): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2440 | chr19 | TogoVar | |||||||
CELF6_chr15_72279727_72325157 | 72314589 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 a0001c0001t0002g0158 |
2 | 195 | 0.0103 | 27 | c.345 others(44): Show |
CELF6 | ENSG00000140488.16 | transcript | ENST00000287202.10 | protein_coding | 2/12 | chr15 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46365985 | A | AAGGTGGT others(20): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0004 | a0004c0051 | a0004c0051t0001 | a0004c0051t0001g0031 | 1 | 102 | 0.0098 | 27 | c.830 others(44): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46373650 | T | TGGGGAGA others(20): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0023 | a0023c0059 | a0023c0059t0001 | a0023c0059t0001g0095 | 1 | 100 | 0.0100 | 27 | c.758 others(44): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46373676 | T | TGGGGGAG others(20): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0034 | a0034c0066 | a0034c0066t0009 | a0034c0066t0009g0104 | 1 | 93 | 0.0108 | 27 | c.758 others(44): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46449369 | C | CCATCCAT others(20): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02647.hp2 others(1): Show |
a0001a0020a0023others(1): Show | a0001c0028a0020c0010a0023c0059others(1): Show | a0001c0028t0001a0020c0010t0001a0023c0059t0001others(1): Show | a0001c0028t0001g0038 a0020c0010t0001g0007 a0023c0059t0001g0095 others(1): Show |
4 | 102 | 0.0392 | 27 | c.418 others(46): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | TogoVar | |||||||
CEMIP_chr15_80774370_80956771 | 80900679 | T | TGTGTGTG others(20): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0202 | 1 | 247 | 0.0040 | 27 | c.141 others(46): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 12/29 | chr15 | TogoVar | |||||||
CEMIP_chr15_80774370_80956771 | 80942080 | C | CCCCTTTG others(20): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 249 | 0.0040 | 27 | c.361 others(42): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CEMP1_chr16_2525035_2536408 | 2533430 | A | ATTTTTTT others(20): Show |
upstream_gene_variant | MODIFIER | NA18954.hp2 NA18955.hp1 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 15 | 0.2000 | 27 | c.-23 others(38): Show |
CEMP1 | ENSG00000205923.3 | transcript | ENST00000567119.1 | protein_coding | 2023 | chr16 | TogoVar | |||||||
CENPH_chr5_69184583_69215357 | 69200719 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02572.hp2 NA18952.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 2 | 24 | 0.0833 | 27 | c.372 others(44): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CENPO_chr2_24788425_24827376 | 24817466 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03579.hp1 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0025 | 2 | 56 | 0.0357 | 27 | c.767 others(42): 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(20): Show |
intron_variant | MODIFIER | NA18951.hp2 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0016 a0001c0001t0005g0031 |
2 | 140 | 0.0143 | 27 | c.565 others(46): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92552080 | C | CATATATG others(20): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02886.hp2 HG03225.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 others(2): Show |
5 | 249 | 0.0201 | 27 | c.565 others(46): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92552080 | C | CATATATG others(20): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01358.hp1 HG02300.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0009 a0001c0001t0008g0010 a0001c0001t0008g0011 others(4): Show |
7 | 251 | 0.0279 | 27 | c.565 others(46): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPT_chr16_67823157_67852693 | 67842862 | G | GGCAGCAG others(20): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0190 | 1 | 264 | 0.0038 | 27 | c.-49 others(46): Show |
CENPT | ENSG00000102901.13 | transcript | ENST00000562787.6 | protein_coding | 1/15 | chr16 | TogoVar | |||||||
CENPT_chr16_67823157_67852693 | 67842875 | A | ACAGCAGC others(20): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 262 | 0.0038 | 27 | c.-49 others(46): Show |
CENPT | ENSG00000102901.13 | transcript | ENST00000562787.6 | protein_coding | 1/15 | chr16 | TogoVar | |||||||
CENPT_chr16_67823157_67852693 | 67842902 | A | ACAGCAGC others(20): Show |
intron_variant | MODIFIER | HG04199.hp1 NA19085.hp1 NA19085.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0105 a0001c0001t0001g0173 a0002c0002t0001g0005 |
3 | 258 | 0.0116 | 27 | c.-49 others(46): Show |
CENPT | ENSG00000102901.13 | transcript | ENST00000562787.6 | protein_coding | 1/15 | chr16 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65970437 | T | TCATGCAT others(20): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0083 | 1 | 109 | 0.0092 | 27 | c.173 others(46): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101938159 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02809.hp2 HG03654.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018a0001c0001t0025others(1): Show | a0001c0001t0002g0228 a0001c0001t0018g0223 a0001c0001t0025g0150 others(1): Show |
4 | 152 | 0.0263 | 27 | c.249 others(44): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80810323 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 1 | 48 | 0.0208 | 27 | c.121 others(48): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | |||||||
CEP170B_chr14_104860268_104901747 | 104860525 | A | AGTACCAC others(20): Show |
upstream_gene_variant | MODIFIER | NA18940.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0198 | 1 | 326 | 0.0031 | 27 | c.-50 others(38): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 4742 | chr14 | TogoVar | |||||||
CEP170_chr1_243119428_243260281 | 243159802 | T | TGTGTGTG others(20): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 301 | 0.0033 | 27 | c.367 others(46): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 13/19 | chr1 | TogoVar | |||||||
CEP72_chr5_607340_658553 | 649951 | T | TGACTGTG others(20): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(8): Show |
12 | 87 | 0.1379 | 27 | c.177 others(46): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 651236 | C | CTGAGGCG others(20): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01243.hp1 others(11): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0001a0002c0002t0001a0005c0007t0001 | a0001c0001t0001g0007 a0002c0002t0001g0067 a0002c0002t0001g0069 others(11): Show |
14 | 74 | 0.1892 | 27 | c.177 others(46): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 651323 | G | GTGGACTG others(20): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02258.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 others(2): Show |
5 | 81 | 0.0617 | 27 | c.177 others(46): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GGGGGGGG others(20): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0002 | a0002c0002t0028 | a0002c0002t0028g0209 | 1 | 117 | 0.0085 | 27 | c.232 others(46): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GGGGGGGG others(20): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0238 | 1 | 117 | 0.0085 | 27 | c.232 others(46): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85_chr1_26229200_26283808 | 26248722 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0133 | 1 | 98 | 0.0102 | 27 | c.208 others(44): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181609533 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01943.hp1 NA18959.hp2 others(6): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0003a0002c0003t0004a0002c0004t0002others(2): Show | a0002c0003t0003g0106 a0002c0003t0004g0012 a0002c0003t0004g0099 others(6): Show |
9 | 42 | 0.2143 | 27 | c.239 others(44): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
CERS4_chr19_8204370_8267421 | 8245110 | T | TCAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03834.hp1 NA18954.hp1 NA18974.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0021 | a0001c0001t0003a0001c0002t0006a0001c0021t0005 | a0001c0001t0003g0049 a0001c0002t0006g0210 a0001c0002t0006g0304 others(2): Show |
5 | 416 | 0.0120 | 27 | c.-1- others(42): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8245112 | A | AAAAAAAC others(20): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0209 | 1 | 326 | 0.0031 | 27 | c.-1- others(42): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8245112 | A | AAAAAAAC others(20): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02896.hp2 NA19000.hp2 |
a0001 | a0001c0001a0001c0006a0001c0008 | a0001c0001t0007a0001c0006t0006a0001c0008t0001 | a0001c0001t0007g0378 a0001c0006t0006g0256 a0001c0008t0001g0183 |
3 | 328 | 0.0091 | 27 | c.-1- others(42): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8266863 | C | CAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG04115.hp1 HG04199.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0276 a0001c0002t0003g0416 |
2 | 56 | 0.0357 | 27 | c.*47 others(38): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4443 | chr19 | TogoVar | |||||||
CERS4_chr19_8204370_8267421 | 8267294 | C | CAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG02074.hp2 HG02129.hp1 NA18999.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0004 | a0001c0001t0002g0262 a0001c0001t0002g0340 a0001c0001t0002g0369 others(2): Show |
5 | 112 | 0.0446 | 27 | c.*51 others(38): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4874 | chr19 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168486518 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 157 | 0.0064 | 27 | c.170 others(46): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168559754 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0049 | 1 | 172 | 0.0058 | 27 | c.277 others(44): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 2/9 | chr2 | TogoVar | |||||||
CERT1_chr5_75372775_75516629 | 75393602 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00735.hp2 HG01069.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0002t0001 | a0001c0001t0002g0117 a0001c0001t0002g0189 a0001c0001t0002g0190 others(5): Show |
8 | 16 | 0.5000 | 27 | c.118 others(46): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 11/16 | chr5 | TogoVar | |||||||
CES5A_chr16_55841154_55880373 | 55854532 | T | TTTCTGTT others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(113): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0002c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0196 others(97): Show |
116 | 447 | 0.2595 | 27 | c.112 others(46): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 9/12 | chr16 | TogoVar | |||||||
CFAP206_chr6_87402972_87469465 | 87447951 | T | TTTATTAT others(20): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00642.hp1 others(21): Show |
a0001a0002a0004 | a0001c0014a0002c0002a0004c0005 | a0001c0014t0002a0002c0002t0001a0004c0005t0001 | a0001c0014t0002g0025 a0002c0002t0001g0022 a0002c0002t0001g0241 others(20): Show |
24 | 170 | 0.1412 | 27 | c.149 others(48): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |