| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATP11A_chr13_112685038_112892168 | 112723285 | T | TCCCCACC others(339): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 254 | 0.0039 | 346 | c.39+ others(363): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP5MJ_chr14_103907288_103926529 | 103918363 | T | TTTTTTTT others(339): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 440 | 0.0023 | 346 | c.-1+ others(361): Show |
ATP5MJ | ENSG00000156411.10 | transcript | ENST00000286953.8 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
| ATP8A2_chr13_25366974_26030851 | 25462736 | T | TAGCTGGA others(339): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0103 | 1 | 122 | 0.0082 | 346 | c.77- others(361): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | chr13 | TogoVar | ||||||
| AUH_chr9_91208823_91366918 | 91347963 | T | TAAAAAAC others(339): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02027.hp2 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048a0001c0001t0001g0049a0001c0001t0001g0050 | 3 | 358 | 0.0084 | 346 | c.418 others(363): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
| B4GALNT4_chr11_364499_387117 | 374730 | A | AGGAAGGG others(339): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0118 | 1 | 184 | 0.0054 | 346 | c.784 others(361): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| B4GALNT4_chr11_364499_387117 | 374933 | G | GAGGGAGG others(339): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0137 | 1 | 184 | 0.0054 | 346 | c.784 others(361): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BCL11A_chr2_60452194_60558654 | 60467390 | G | GTGGTGAT others(339): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0148 | 1 | 262 | 0.0038 | 346 | c.487 others(363): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
| BCL2_chr18_63118346_63324769 | 63260697 | T | TAAAAATG others(339): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0060 | 1 | 264 | 0.0038 | 346 | c.585 others(365): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
| BCOR_chrX_40046251_40102958 | 40080061 | C | CAAGAAAA others(339): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02965.hp1 NA18967.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0001g0102others(3): Show | 6 | 257 | 0.0234 | 346 | c.-40 others(363): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 1/14 | chrX | TogoVar | ||||||
| BCOR_chrX_40046251_40102958 | 40080061 | C | CAAGAAAA others(339): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0103 | 1 | 257 | 0.0039 | 346 | c.-40 others(363): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 1/14 | chrX | TogoVar | ||||||
| BICD1_chr12_32101847_32388633 | 32205715 | T | TTATATGT others(339): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0225a0001c0001t0006g0021 | 2 | 290 | 0.0069 | 346 | c.214 others(365): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BRD1_chr22_49768283_49832873 | 49782225 | C | CCGCTCCG others(339): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0049 | 1 | 258 | 0.0039 | 346 | c.285 others(365): Show |
BRD1 | ENSG00000100425.19 | transcript | ENST00000404760.6 | protein_coding | 8/12 | chr22 | TogoVar | ||||||
| C12orf40_chr12_39621183_39726914 | 39651380 | T | TAAAATCT others(339): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0033 | 1 | 360 | 0.0028 | 346 | c.686 others(363): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| C8orf34_chr8_68325955_68824023 | 68674881 | T | TAAAGAAA others(339): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090 | 1 | 128 | 0.0078 | 346 | c.124 others(367): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| C9orf85_chr9_71906639_71978457 | 71929860 | T | TAAACTTA others(339): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 250 | 0.0040 | 346 | c.103 others(365): Show |
C9orf85 | ENSG00000155621.15 | transcript | ENST00000334731.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1185961 | T | TGCGTAGG others(339): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091 | 1 | 338 | 0.0030 | 346 | c.300 others(363): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CALHM5_chr6_116506639_116529788 | 116522977 | T | TAAAATGT others(339): Show |
3_prime_UTR_variant | MODIFIER | NA18968.hp2 NA19063.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0051a0001c0001t0142 | a0001c0001t0051g0002a0001c0001t0142g0002 | 3 | 402 | 0.0075 | 346 | c.*70 others(357): Show |
CALHM5 | ENSG00000178033.6 | transcript | ENST00000368599.4 | protein_coding | 2/2 | 7005 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
| CALY_chr10_133319072_133341896 | 133333743 | T | TGGAAGGC others(339): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0079 | 1 | 250 | 0.0040 | 346 | c.-21 others(363): Show |
CALY | ENSG00000130643.9 | transcript | ENST00000252939.9 | protein_coding | 1/5 | chr10 | TogoVar | ||||||
| CAMKK2_chr12_121232692_121301709 | 121255266 | A | ATATATAT others(339): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0297 | 1 | 330 | 0.0030 | 346 | c.907 others(361): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | ||||||
| CAMSAP1_chr9_135803487_135912546 | 135847949 | G | GGGGAAGG others(339): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0319 | 1 | 340 | 0.0029 | 346 | c.104 others(365): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 7/16 | chr9 | TogoVar | ||||||
| CAPN11_chr6_44153820_44189401 | 44182119 | A | ACTCACAC others(339): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0013 | a0013c0023 | a0013c0023t0001 | a0013c0023t0001g0315 | 1 | 460 | 0.0022 | 346 | c.193 others(363): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CARS2_chr13_110636417_110711116 | 110677538 | T | TCAGACAG others(339): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0240 | 1 | 372 | 0.0027 | 346 | c.656 others(361): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 6/14 | chr13 | TogoVar | ||||||
| CASP10_chr2_201178141_201226665 | 201197142 | T | TTTAAAAT others(339): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01175.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106a0001c0001t0001g0167 | 2 | 322 | 0.0062 | 346 | c.684 others(363): Show |
CASP10 | ENSG00000003400.16 | transcript | ENST00000286186.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CASP8_chr2_201255536_201292709 | 201284695 | G | GGGGAGAG others(339): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0073a0001c0001t0004g0075 | 2 | 386 | 0.0052 | 346 | c.803 others(360): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CCDC141_chr2_178824757_179055137 | 179015551 | C | CTCATATA others(339): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0011 | a0001c0011t0035 | a0001c0011t0035g0056 | 1 | 274 | 0.0037 | 346 | c.225 others(365): Show |
CCDC141 | ENSG00000163492.16 | transcript | ENST00000443758.7 | protein_coding | 2/23 | chr2 | TogoVar | ||||||
| CCDC14_chr3_123908422_123966229 | 123931846 | T | TCTTTTTT others(339): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0204 | 1 | 368 | 0.0027 | 346 | c.142 others(363): Show |
CCDC14 | ENSG00000175455.16 | transcript | ENST00000409697.8 | protein_coding | 10/12 | chr3 | TogoVar | ||||||
| CCDC153_chr11_119185254_119200841 | 119191312 | A | ATGGTCCC others(339): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0097 | 1 | 428 | 0.0023 | 346 | c.350 others(361): Show |
CCDC153 | ENSG00000248712.8 | transcript | ENST00000503566.7 | protein_coding | 5/6 | chr11 | TogoVar | ||||||
| CCDC77_chr12_396644_447642 | 437534 | A | AGGAAGTT others(339): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 432 | 0.0023 | 346 | c.822 others(361): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CCNC_chr6_99537387_99573660 | 99550659 | A | ATAATCTA others(339): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0068 | 1 | 410 | 0.0024 | 346 | c.438 others(361): Show |
CCNC | ENSG00000112237.13 | transcript | ENST00000520429.6 | protein_coding | 7/11 | chr6 | TogoVar | ||||||
| CDH13_chr16_82621969_83805640 | 83099624 | T | TCTACATA others(339): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 110 | 0.0091 | 346 | c.367 others(365): Show |
CDH13 | ENSG00000140945.17 | transcript | ENST00000567109.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CDYL2_chr16_80592907_80809598 | 80663084 | T | TAAAAAAA others(339): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0002 | a0001c0002t0049 | a0001c0002t0049g0167 | 1 | 258 | 0.0039 | 346 | c.616 others(365): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
| CELF2_chr10_11012872_11341675 | 11284020 | T | TGGATGAC others(339): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00621.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(13): Show | a0001c0001t0001g0175a0001c0001t0002g0172a0001c0001t0012g0079others(17): Show | 20 | 194 | 0.1031 | 346 | c.842 others(363): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CENPE_chr4_103100811_103203343 | 103113151 | A | AGTGTATA others(339): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0043 | 1 | 320 | 0.0031 | 346 | c.754 others(365): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 46/48 | chr4 | TogoVar | ||||||
| CENPJ_chr13_24877279_24927861 | 24881982 | A | ATATAGAT others(339): Show |
downstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0236 | 1 | 440 | 0.0023 | 346 | c.*11 others(357): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 296 | chr13 | TogoVar | ||||||
| CENPU_chr4_184689085_184739096 | 184730507 | T | TAAAGAAA others(339): Show |
intron_variant | MODIFIER | HG03130.hp2 NA19240.hp1 |
a0003a0005 | a0003c0003a0005c0007 | a0003c0003t0003a0005c0007t0003 | a0003c0003t0003g0269a0005c0007t0003g0284 | 2 | 358 | 0.0056 | 346 | c.96+ others(359): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 2/12 | chr4 | TogoVar | ||||||
| CFAP44_chr3_113281930_113446493 | 113328297 | T | TCAATCTC others(339): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02622.hp1 NA18941.hp2 others(2): Show |
a0002a0007 | a0002c0002a0007c0009 | a0002c0002t0005a0002c0002t0020a0002c0002t0068others(1): Show | a0002c0002t0005g0110a0002c0002t0020g0091a0002c0002t0068g0090others(2): Show | 5 | 348 | 0.0144 | 346 | c.411 others(363): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 26/34 | chr3 | TogoVar | ||||||
| CFAP44_chr3_113281930_113446493 | 113328300 | A | ATCTCTTT others(339): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02027.hp1 HG02056.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004a0002c0002t0050 | a0002c0002t0002g0035a0002c0002t0002g0039a0002c0002t0002g0071others(4): Show | 7 | 348 | 0.0201 | 346 | c.411 others(363): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 26/34 | chr3 | TogoVar | ||||||
| CHM_chrX_85856180_86052558 | 85911175 | G | GTGTGTAT others(339): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0043 | 1 | 245 | 0.0041 | 346 | c.124 others(361): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 9/14 | chrX | TogoVar | ||||||
| CHM_chrX_85856180_86052558 | 85911176 | A | AATATATA others(339): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0245 | 1 | 245 | 0.0041 | 346 | c.124 others(361): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 9/14 | chrX | TogoVar | ||||||
| CIP2A_chr3_108544864_108594438 | 108575619 | T | TGTATATA others(339): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01243.hp2 others(9): Show |
a0001a0016 | a0001c0003a0016c0016 | a0001c0003t0003a0016c0016t0003 | a0001c0003t0003g0001a0001c0003t0003g0009a0001c0003t0003g0298others(6): Show | 12 | 372 | 0.0323 | 346 | c.894 others(361): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | ||||||
| CNBD1_chr8_86861415_87387859 | 87136914 | T | TTTATATT others(339): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 152 | 0.0066 | 346 | c.432 others(365): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| COL14A1_chr8_120120102_120378573 | 120276186 | T | TAAAAAAG others(339): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0083 | 1 | 218 | 0.0046 | 346 | c.321 others(365): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| COL25A1_chr4_108803725_109307658 | 109079795 | T | TAAGAGTT others(339): Show |
intron_variant | MODIFIER | HG02056.hp1 NA19086.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0009t0002 | a0001c0001t0002g0075a0001c0009t0002g0097 | 2 | 130 | 0.0154 | 346 | c.368 others(365): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
| COL4A3_chr2_227159624_227319792 | 227202846 | C | CATATGTG others(339): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0027 | a0027c0048 | a0027c0048t0001 | a0027c0048t0001g0141 | 1 | 344 | 0.0029 | 346 | c.88- others(363): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| COLEC11_chr2_3590112_3649644 | 3605426 | A | AGGGGCGG others(339): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0003 | a0003c0012 | a0003c0012t0001 | a0003c0012t0001g0358 | 1 | 378 | 0.0027 | 346 | c.130 others(361): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CPNE3_chr8_86509435_86566498 | 86532798 | T | TAAGAGAG others(339): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0325a0001c0002t0005g0326 | 2 | 340 | 0.0059 | 346 | c.459 others(361): Show |
CPNE3 | ENSG00000085719.13 | transcript | ENST00000517490.6 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| CPPED1_chr16_12654799_12808887 | 12666129 | T | TAAAAATA others(339): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0018 | a0018c0014 | a0018c0014t0013 | a0018c0014t0013g0060 | 1 | 290 | 0.0035 | 346 | c.716 others(363): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
| CREB1_chr2_207524962_207610988 | 207607677 | T | TATCATAC others(339): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0045 | 1 | 308 | 0.0033 | 346 | c.*10 others(359): Show |
CREB1 | ENSG00000118260.15 | transcript | ENST00000353267.8 | protein_coding | 1690 | chr2 | TogoVar | ||||||
| CREB3L2_chr7_137869979_138007086 | 137946852 | T | TTATATAT others(339): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0217a0001c0001t0024g0220 | 2 | 288 | 0.0069 | 346 | c.103 others(365): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
| CRELD2_chr22_49913634_49932537 | 49926713 | C | CCCCACCC others(339): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 324 | 0.0031 | 346 | c.101 others(363): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |