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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDKL4_chr2_39170646_39248970 | 39220999 | TTGTTTTT others(18): Show |
T | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 290 | 0.0035 | -25 | c.290 others(42): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 3/9 | chr2 | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18442467 | TTTTTGTT others(18): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG02293.hp2 HG02630.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0012a0001c0002t0032 | a0001c0001t0012g0001a0001c0002t0012g0002a0001c0002t0012g0004others(1): Show | 4 | 192 | 0.0208 | -25 | c.-16 others(46): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKN1B_chr12_12712368_12727369 | 12717213 | CGGGGAGG others(18): Show |
C | upstream_gene_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0003 | 1 | 442 | 0.0023 | -25 | c.-62 others(34): Show |
CDKN1B | ENSG00000111276.12 | transcript | ENST00000228872.9 | protein_coding | 154 | chr12 | TogoVar | ||||||
CDKN1B_chr12_12712368_12727369 | 12725638 | CGGCCCCA others(18): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(130): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0024others(17): Show | 133 | 442 | 0.3009 | -25 | c.*46 others(36): Show |
CDKN1B | ENSG00000111276.12 | transcript | ENST00000228872.9 | protein_coding | 3270 | chr12 | TogoVar | ||||||
CDYL2_chr16_80592907_80809598 | 80672535 | AAAAGGAA others(18): Show |
A | intron_variant | MODIFIER | HG02970.hp2 HG03471.hp1 |
a0001 | a0001c0005 | a0001c0005t0011 | a0001c0005t0011g0066a0001c0005t0011g0235 | 2 | 258 | 0.0078 | -25 | c.616 others(44): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
CEACAM19_chr19_44666482_44689355 | 44669536 | TCTCTCCT others(18): Show |
T | upstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 390 | 0.0026 | -25 | c.-23 others(36): Show |
CEACAM19 | ENSG00000186567.14 | transcript | ENST00000358777.10 | protein_coding | 1945 | chr19 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17427751 | CATGCTGA others(18): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00597.hp1 others(49): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0023a0001c0001t0001g0069a0001c0001t0001g0093others(49): Show | 52 | 324 | 0.1605 | -25 | c.127 others(44): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CELA2A_chr1_15451732_15477091 | 15458908 | TAAAAAAA others(18): Show |
T | intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0163 | 1 | 430 | 0.0023 | -25 | c.129 others(42): Show |
CELA2A | ENSG00000142615.8 | transcript | ENST00000359621.5 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CELF4_chr18_37238040_37570798 | 37308284 | GCCTGGCG others(18): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0018a0001c0001t0019a0001c0001t0024others(1): Show | a0001c0001t0018g0030a0001c0001t0019g0043a0001c0001t0024g0049others(1): Show | 4 | 184 | 0.0217 | -25 | c.448 others(44): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 3/12 | chr18 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3301326 | GTTTTTTT others(18): Show |
G | downstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 262 | 0.0038 | -25 | c.*46 others(36): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 4251 | chr19 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80848953 | ATTTTTTT others(18): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02897.hp2 HG03209.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0011others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0077a0001c0001t0007g0016others(3): Show | 6 | 254 | 0.0236 | -25 | c.-17 others(46): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92361440 | CTTATTTT others(18): Show |
C | intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0061 | 1 | 260 | 0.0039 | -25 | c.467 others(44): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92533315 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0134 | 1 | 260 | 0.0039 | -25 | c.565 others(44): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92552019 | GATAGATC others(18): Show |
G | intron_variant | MODIFIER | HG02723.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0202a0001c0001t0006g0203 | 2 | 260 | 0.0077 | -25 | c.565 others(44): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92552024 | ATCTATCA others(18): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00735.hp1 others(29): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0021others(6): Show | a0001c0001t0001g0015a0001c0001t0001g0135a0001c0001t0001g0137others(29): Show | 32 | 260 | 0.1231 | -25 | c.565 others(44): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92552049 | GTCTATCA others(18): Show |
G | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0178 | 1 | 260 | 0.0039 | -25 | c.565 others(44): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92552161 | TATATATG others(18): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 |
a0003 | a0003c0003 | a0003c0003t0018a0003c0003t0022 | a0003c0003t0018g0006a0003c0003t0022g0007 | 2 | 260 | 0.0077 | -25 | c.565 others(44): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPW_chr6_126335115_126353875 | 126344542 | GCTACCAA others(18): Show |
G | intron_variant | MODIFIER | NA19091.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 2 | 292 | 0.0069 | -25 | c.127 others(42): Show |
CENPW | ENSG00000203760.9 | transcript | ENST00000368328.5 | protein_coding | 1/2 | chr6 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101911094 | CTTTTTTT others(18): Show |
C | upstream_gene_variant | MODIFIER | HG01934.hp1 HG02080.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0039a0001c0002t0001 | a0001c0001t0039g0313a0001c0002t0001g0201 | 2 | 336 | 0.0060 | -25 | c.-41 others(36): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 3915 | chr11 | TogoVar | ||||||
CEP135_chr4_55943945_56038361 | 56010410 | AAACACAT others(18): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0268 | 1 | 346 | 0.0029 | -25 | c.250 others(42): Show |
CEP135 | ENSG00000174799.12 | transcript | ENST00000257287.5 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CEP135_chr4_55943945_56038361 | 56031039 | GAAGGATC others(18): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG01069.hp1 HG01071.hp1 others(8): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0003a0001c0003t0003g0019a0001c0003t0003g0273others(3): Show | 11 | 346 | 0.0318 | -25 | c.*12 others(40): Show |
CEP135 | ENSG00000174799.12 | transcript | ENST00000257287.5 | protein_coding | 25/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109136700 | TTTTTATT others(18): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0130 | 1 | 228 | 0.0044 | -25 | c.-3- others(40): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP76_chr18_12667625_12707723 | 12694058 | GCTGGACT others(18): Show |
G | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 380 | 0.0026 | -25 | c.804 others(42): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 6/11 | chr18 | TogoVar | ||||||
CEPT1_chr1_111135223_111190104 | 111140498 | CGACTGCC others(18): Show |
C | intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 410 | 0.0024 | -25 | c.-74 others(40): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEPT1_chr1_111135223_111190104 | 111154187 | GTATTTTA others(18): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG00609.hp2 others(135): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(95): Show | 138 | 410 | 0.3366 | -25 | c.340 others(42): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CERS3_chr15_100395395_100533950 | 100413510 | GACTATAC others(18): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(144): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(17): Show | a0001c0001t0002g0015a0001c0001t0002g0016a0001c0001t0002g0017others(143): Show | 147 | 362 | 0.4061 | -25 | c.100 others(46): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 11/11 | chr15 | TogoVar | ||||||
CETP_chr16_56956950_56988845 | 56964002 | ATTTATTT others(18): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0216 | 1 | 462 | 0.0022 | -25 | c.233 others(40): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CFAP161_chr15_81129270_81154179 | 81133200 | TATATATA others(18): Show |
T | upstream_gene_variant | MODIFIER | HG02148.hp2 HG02273.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 2 | 448 | 0.0045 | -25 | c.-11 others(36): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 1069 | chr15 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81133202 | TATATATA others(18): Show |
T | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00733.hp1 HG00735.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0032a0001c0001t0001g0234a0001c0001t0001g0235others(11): Show | 25 | 448 | 0.0558 | -25 | c.-11 others(36): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 1067 | chr15 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81146858 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | NA18978.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0287 | 1 | 448 | 0.0022 | -25 | c.637 others(40): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121960050 | TTGAGCCC others(18): Show |
T | intron_variant | MODIFIER | HG02735.hp1 | a0015 | a0015c0025 | a0015c0025t0001 | a0015c0025t0001g0027 | 1 | 354 | 0.0028 | -25 | c.213 others(42): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP276_chr1_109100951_109117747 | 109106700 | AATCAGAG others(18): Show |
A | intron_variant | MODIFIER | NA18942.hp1 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0061 | 1 | 404 | 0.0025 | -25 | c.315 others(38): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 3/4 | chr1 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80800497 | TAATATAT others(18): Show |
T | intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 96 | 0.0104 | -25 | c.334 others(44): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80800516 | TAATATAT others(18): Show |
T | intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 96 | 0.0104 | -25 | c.334 others(44): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | chr4 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113320538 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 348 | 0.0029 | -25 | c.451 others(44): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 28/34 | chr3 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104396414 | GAGAGAGA others(18): Show |
G | intron_variant | MODIFIER | HG01168.hp1 HG01175.hp2 NA18965.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0030a0002c0002t0001g0048a0002c0002t0001g0128 | 3 | 308 | 0.0097 | -25 | c.167 others(44): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104438349 | TTTTTTTT others(18): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0222a0001c0004t0001g0223a0001c0004t0001g0224others(1): Show | 4 | 308 | 0.0130 | -25 | c.225 others(44): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20175489 | TTTTTGTT others(18): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00735.hp1 others(53): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0003a0001c0015others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0028a0001c0001t0001g0082a0001c0001t0001g0169others(53): Show | 56 | 236 | 0.2373 | -25 | c.138 others(44): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20284279 | ATTTTATT others(18): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG00741.hp2 others(65): Show |
a0001a0002a0005others(7): Show | a0001c0001a0001c0003a0001c0006others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(27): Show | a0001c0001t0001g0028a0001c0001t0001g0154a0001c0001t0001g0162others(65): Show | 68 | 236 | 0.2881 | -25 | c.279 others(44): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 22/26 | chr20 | TogoVar | ||||||
CFAP65_chr2_218997846_219046516 | 219014788 | GCACCTGA others(18): Show |
G | intron_variant | MODIFIER | HG02897.hp2 HG03225.hp1 NA19240.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0145a0001c0001t0001g0146a0003c0003t0001g0253 | 3 | 322 | 0.0093 | -25 | c.360 others(42): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 21/34 | chr2 | TogoVar | ||||||
CFAP69_chr7_90240174_90316063 | 90290743 | GTCTTTTC others(18): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG01069.hp1 HG01070.hp1 others(50): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0004a0001c0006others(4): Show | a0001c0002t0002a0001c0002t0006a0001c0004t0002others(5): Show | a0001c0002t0002g0024a0001c0002t0002g0098a0001c0002t0002g0099others(49): Show | 53 | 338 | 0.1568 | -25 | c.177 others(44): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFAP92_chr3_128904873_128999076 | 128984050 | CGGGGGAC others(18): Show |
C | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 342 | 0.0029 | -25 | c.667 others(42): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 4/15 | chr3 | TogoVar | ||||||
CFAP99_chr4_2413955_2468002 | 2414279 | ACATGCCA others(18): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0303 | 1 | 350 | 0.0029 | -25 | c.-48 others(36): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 4675 | chr4 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201114024 | ATATATAT others(18): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00741.hp2 others(7): Show |
a0001a0003 | a0001c0002a0003c0008 | a0001c0002t0008a0001c0002t0012a0001c0002t0120others(5): Show | a0001c0002t0008g0026a0001c0002t0008g0030a0001c0002t0012g0005others(7): Show | 10 | 234 | 0.0427 | -25 | c.-25 others(36): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2139 | chr2 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201114026 | ATATATAT others(18): Show |
A | upstream_gene_variant | MODIFIER | HG01175.hp1 HG01891.hp1 HG02080.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0008a0001c0002t0013others(1): Show | a0001c0002t0007g0006a0001c0002t0007g0036a0001c0002t0007g0037others(4): Show | 8 | 234 | 0.0342 | -25 | c.-25 others(36): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2137 | chr2 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201114028 | ATATATAT others(18): Show |
A | upstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0028 | 1 | 234 | 0.0043 | -25 | c.-25 others(36): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2135 | chr2 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57405818 | CTTTCTTT others(18): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02572.hp2 HG02622.hp2 others(7): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0038others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(6): Show | a0001c0001t0001g0189a0001c0001t0001g0272a0001c0001t0002g0100others(7): Show | 10 | 294 | 0.0340 | -25 | c.-16 others(44): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57464670 | TTTTCCTT others(18): Show |
T | intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0002 | a0002c0002t0029 | a0002c0002t0029g0285 | 1 | 294 | 0.0034 | -25 | c.240 others(44): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHADL_chr22_41224513_41245931 | 41235750 | TTAGATAC others(18): Show |
T | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 414 | 0.0024 | -25 | c.206 others(42): Show |
CHADL | ENSG00000100399.16 | transcript | ENST00000216241.14 | protein_coding | 4/5 | chr22 | TogoVar | ||||||
CHAF1B_chr21_36380392_36424015 | 36401549 | ATTTTTAT others(18): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG02055.hp2 HG02258.hp2 others(11): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0005a0001c0001t0006a0001c0001t0017others(2): Show | a0001c0001t0005g0304a0001c0001t0005g0314a0001c0001t0005g0315others(11): Show | 14 | 346 | 0.0405 | -25 | c.664 others(42): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |