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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLUH_chr17_2684387_2716764 | 2714487 | C | CAGCATCT others(6): Show |
upstream_gene_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 418 | 0.0024 | 13 | c.-28 others(24): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 2724 | chr17 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 627004 | A | AGAGAGAA others(6): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01109.hp2 HG01515.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0066 a0001c0001t0001g0133 a0001c0001t0001g0166 others(8): Show |
11 | 392 | 0.0281 | 13 | c.424 others(26): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | chr18 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 645810 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 189 | 0.0053 | 13 | c.139 others(30): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CLU_chr8_27591917_27619700 | 27601822 | A | AGCCAGGC others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(95): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0010a0002c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0006 a0001c0001t0001g0051 a0001c0001t0001g0062 others(53): Show |
98 | 456 | 0.2149 | 13 | c.935 others(30): Show |
CLU | ENSG00000120885.22 | transcript | ENST00000316403.15 | protein_coding | 6/8 | chr8 | TogoVar | |||||||
CLVS1_chr8_61282970_61506629 | 61357494 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 39 | 0.0256 | 13 | c.456 others(32): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CLVS1_chr8_61282970_61506629 | 61377893 | G | GTGGCTAC others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00639.hp1 others(106): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0022 others(106): Show |
109 | 182 | 0.5989 | 13 | c.630 others(30): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CLVS2_chr6_122991235_123077925 | 122991295 | A | AGGGCAGG others(6): Show |
upstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 334 | 0.0030 | 13 | c.-60 others(24): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 4939 | chr6 | TogoVar | |||||||
CLVS2_chr6_122991235_123077925 | 123010797 | T | TAAATTCG others(6): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0178 | 1 | 334 | 0.0030 | 13 | c.390 others(28): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99716169 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00735.hp2 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 a0001c0001t0001g0138 |
2 | 52 | 0.0385 | 13 | c.63- others(30): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99754416 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01891.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0112 |
2 | 121 | 0.0165 | 13 | c.63- others(30): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99833030 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 168 | 0.0060 | 13 | c.250 others(32): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99833031 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01069.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0033 a0001c0001t0001g0052 a0001c0001t0001g0075 others(5): Show |
8 | 176 | 0.0455 | 13 | c.250 others(32): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | chr13 | TogoVar | |||||||
CMAS_chr12_22041218_22070668 | 22044895 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02886.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0117 a0001c0003t0001g0118 |
2 | 441 | 0.0045 | 13 | c.-14 others(24): Show |
CMAS | ENSG00000111726.13 | transcript | ENST00000229329.7 | protein_coding | 1322 | chr12 | TogoVar | |||||||
CMAS_chr12_22041218_22070668 | 22060333 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02818.hp1 NA18941.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0231 others(4): Show |
7 | 42 | 0.1667 | 13 | c.694 others(28): Show |
CMAS | ENSG00000111726.13 | transcript | ENST00000229329.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CMC1_chr3_28236619_28330142 | 28274206 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01258.hp1 HG01261.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0028a0001c0001t0041 | a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0001g0218 others(6): Show |
9 | 264 | 0.0341 | 13 | c.109 others(32): Show |
CMC1 | ENSG00000187118.14 | transcript | ENST00000466830.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80963722 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 NA19056.hp1 |
a0002 | a0002c0002 | a0002c0002t0011a0002c0002t0133 | a0002c0002t0011g0157 a0002c0002t0133g0152 |
2 | 116 | 0.0172 | 13 | c.*12 others(26): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 2725 | chr16 | TogoVar | |||||||
CMC2_chr16_80961448_81011885 | 80965192 | A | ATATATAT others(6): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0103 | a0001c0001t0103g0233 | 1 | 391 | 0.0026 | 13 | c.*10 others(26): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1255 | chr16 | TogoVar | |||||||
CMC2_chr16_80961448_81011885 | 80965200 | A | ATATATAT others(6): Show |
downstream_gene_variant | MODIFIER | NA18947.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0127 | 1 | 263 | 0.0038 | 13 | c.*10 others(26): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1247 | chr16 | TogoVar | |||||||
CMC2_chr16_80961448_81011885 | 80965245 | G | GTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG01109.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0013a0001c0001t0017others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0021 others(12): Show |
16 | 88 | 0.1818 | 13 | c.*10 others(26): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1202 | chr16 | TogoVar | |||||||
CMC2_chr16_80961448_81011885 | 80965246 | T | TATATATT others(6): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0104 | a0001c0001t0104g0155 | 1 | 388 | 0.0026 | 13 | c.*10 others(26): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1201 | chr16 | TogoVar | |||||||
CMC2_chr16_80961448_81011885 | 80965254 | T | TATATATA others(6): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0002 | a0002c0002t0133 | a0002c0002t0133g0152 | 1 | 399 | 0.0025 | 13 | c.*10 others(26): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1193 | chr16 | TogoVar | |||||||
CMC2_chr16_80961448_81011885 | 80971562 | T | TATATATA others(6): Show |
3_prime_UTR_variant | MODIFIER | HG01175.hp2 HG01891.hp1 HG02300.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014a0001c0001t0116 | a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0180 others(4): Show |
7 | 287 | 0.0244 | 13 | c.*45 others(24): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 4/4 | 4530 | chr16 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 81005579 | C | CACTTATC others(6): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02896.hp2 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0038a0001c0001t0100a0001c0001t0101others(1): Show | a0001c0001t0038g0036 a0001c0001t0100g0172 a0001c0001t0101g0171 others(1): Show |
5 | 406 | 0.0123 | 13 | c.-36 others(30): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1/3 | chr16 | TogoVar | |||||||
CMC2_chr16_80961448_81011885 | 81005590 | G | GCGACTTA others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(46): Show | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0018 others(138): Show |
211 | 406 | 0.5197 | 13 | c.-36 others(30): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1/3 | chr16 | TogoVar | |||||||
CMIP_chr16_81439808_81716762 | 81629389 | T | TTGCACCT others(6): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0221 | 1 | 266 | 0.0038 | 13 | c.477 others(30): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206172785 | A | AGGGAGAG others(6): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 314 | 0.0032 | 13 | c.*33 others(24): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2530 | chr2 | TogoVar | |||||||
CMKLR2_chr2_206170316_206218371 | 206172873 | A | AGGGAGAG others(6): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 218 | 0.0046 | 13 | c.*33 others(24): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2442 | chr2 | TogoVar | |||||||
CMKLR2_chr2_206170316_206218371 | 206172929 | A | AGGGAGAG others(6): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02451.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0004a0003c0004t0001others(1): Show | a0001c0001t0001g0076 a0001c0001t0004g0011 a0001c0001t0004g0285 others(3): Show |
6 | 317 | 0.0189 | 13 | c.*32 others(24): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2386 | chr2 | TogoVar | |||||||
CMKLR2_chr2_206170316_206218371 | 206173132 | A | AGGGAGAG others(6): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02015.hp1 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0004a0002c0002t0001a0002c0003t0001others(3): Show | a0001c0001t0004g0011 a0001c0001t0004g0153 a0001c0001t0004g0178 others(14): Show |
17 | 317 | 0.0536 | 13 | c.*30 others(24): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2183 | chr2 | TogoVar | |||||||
CMKLR2_chr2_206170316_206218371 | 206207728 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0129 |
2 | 8 | 0.2500 | 13 | c.-29 others(30): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
CMKLR2_chr2_206170316_206218371 | 206214165 | A | ATTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01981.hp2 others(5): Show |
a0002a0007 | a0002c0003a0007c0009 | a0002c0003t0003a0007c0009t0003 | a0002c0003t0003g0001 a0002c0003t0003g0238 a0002c0003t0003g0241 others(2): Show |
8 | 28 | 0.2857 | 13 | c.-90 others(22): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 795 | chr2 | TogoVar | |||||||
CMPK1_chr1_47328790_47383839 | 47380250 | G | GTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG02155.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0212 | 1 | 179 | 0.0056 | 13 | c.*35 others(24): Show |
CMPK1 | ENSG00000162368.15 | transcript | ENST00000371873.10 | protein_coding | 1412 | chr1 | TogoVar | |||||||
CMSS1_chr3_99812862_100186732 | 99957693 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01069.hp1 HG01257.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0034 a0001c0001t0001g0035 others(36): Show |
39 | 70 | 0.5571 | 13 | c.64+ others(32): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMSS1_chr3_99812862_100186732 | 99996721 | G | GAAACTCC others(6): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0122 | 1 | 232 | 0.0043 | 13 | c.65- others(32): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMSS1_chr3_99812862_100186732 | 100074675 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18522.hp1 NA18961.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0157 a0001c0001t0007g0033 |
2 | 18 | 0.1111 | 13 | c.65- others(30): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM2_chr16_66574463_66593275 | 66589828 | T | TAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018 | 1 | 111 | 0.0090 | 13 | c.*17 others(24): Show |
CMTM2 | ENSG00000140932.10 | transcript | ENST00000268595.3 | protein_coding | 1554 | chr16 | TogoVar | |||||||
CMTM6_chr3_32476312_32507852 | 32477706 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0040 a0001c0001t0003g0003 a0001c0001t0003g0035 others(47): Show |
72 | 209 | 0.3445 | 13 | c.*62 others(24): Show |
CMTM6 | ENSG00000091317.8 | transcript | ENST00000205636.4 | protein_coding | 3605 | chr3 | TogoVar | |||||||
CMTM7_chr3_32386853_32460528 | 32457633 | G | GAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0075 | 1 | 151 | 0.0066 | 13 | c.*33 others(24): Show |
CMTM7 | ENSG00000153551.14 | transcript | ENST00000334983.10 | protein_coding | 2106 | chr3 | TogoVar | |||||||
CMTM8_chr3_32233680_32375321 | 32328370 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02717.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0157 |
3 | 42 | 0.0714 | 13 | c.148 others(32): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32347297 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0318 | 1 | 45 | 0.0222 | 13 | c.148 others(32): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32347297 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01071.hp2 HG01081.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017 a0001c0001t0001g0048 a0001c0001t0001g0051 others(19): Show |
22 | 66 | 0.3333 | 13 | c.148 others(32): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32348529 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0225 | 1 | 30 | 0.0333 | 13 | c.148 others(30): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32362046 | C | CTTTTTCT others(6): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01515.hp2 HG03688.hp2 others(15): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0002 | a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0062 others(15): Show |
18 | 31 | 0.5806 | 13 | c.321 others(30): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMTM8_chr3_32233680_32375321 | 32362046 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG01070.hp1 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0032 others(54): Show |
57 | 70 | 0.8143 | 13 | c.321 others(30): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMYA5_chr5_79684836_79805222 | 79688942 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | NA18977.hp1 NA18994.hp2 |
a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0236 a0004c0006t0003g0258 |
2 | 43 | 0.0465 | 13 | c.-96 others(22): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 893 | chr5 | TogoVar | |||||||
CMYA5_chr5_79684836_79805222 | 79726909 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18952.hp2 NA18983.hp1 NA18997.hp1 others(1): Show |
a0004a0075 | a0004c0006a0004c0011a0075c0113 | a0004c0006t0002a0004c0011t0002a0004c0011t0003others(1): Show | a0004c0006t0002g0059 a0004c0011t0002g0053 a0004c0011t0003g0349 others(1): Show |
4 | 160 | 0.0250 | 13 | c.150 others(30): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 86870189 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0150 | 1 | 53 | 0.0189 | 13 | c.88+ others(28): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 86908800 | T | TTGAGACG others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(141): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0001c0008others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 others(141): Show |
144 | 147 | 0.9796 | 13 | c.272 others(30): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 86925777 | T | TACCTCTG others(6): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 152 | 0.0066 | 13 | c.273 others(32): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 3/10 | chr8 | TogoVar | |||||||
CNBD1_chr8_86861415_87387859 | 86951581 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02155.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0114 |
2 | 4 | 0.5000 | 13 | c.431 others(32): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |