| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TEDC2_chr16_2455109_2469963 | 2466524 | A | ATACAAAA others(459): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 378 | 0.0027 | 466 | c.*18 others(477): Show |
TEDC2 | ENSG00000162062.15 | transcript | ENST00000361837.9 | protein_coding | 1562 | chr16 | TogoVar | |||||||
| TEDC2_chr16_2455109_2469963 | 2466524 | A | ATACAAAA others(459): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 HG02647.hp1 HG02809.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0030 others(1): Show |
7 | 378 | 0.0185 | 466 | c.*18 others(477): Show |
TEDC2 | ENSG00000162062.15 | transcript | ENST00000361837.9 | protein_coding | 1562 | chr16 | TogoVar | |||||||
| TMEM242_chr6_157284025_157328519 | 157311338 | G | GTGTCCCA others(459): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 344 | 0.0029 | 466 | c.327 others(483): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
| TMEM242_chr6_157284025_157328519 | 157311647 | T | TCCCAGTG others(459): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0298 | 1 | 344 | 0.0029 | 466 | c.327 others(483): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
| TNNT1_chr19_55127698_55154206 | 55137506 | A | AGACCCCA others(459): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0147 | 1 | 320 | 0.0031 | 466 | c.502 others(481): Show |
TNNT1 | ENSG00000105048.18 | transcript | ENST00000588981.6 | protein_coding | 10/13 | chr19 | TogoVar | |||||||
| TPCN2_chr11_69043932_69095597 | 69077129 | T | TCCCTCCA others(459): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0243 | 1 | 404 | 0.0025 | 466 | c.123 others(485): Show |
TPCN2 | ENSG00000162341.18 | transcript | ENST00000294309.8 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| TRAF6_chr11_36478769_36515272 | 36507567 | G | GTATATAT others(459): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0279 | 1 | 388 | 0.0026 | 466 | c.-23 others(483): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
| TRIM28_chr19_58539064_58555715 | 58541350 | C | CCCTGCTT others(459): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 402 | 0.0025 | 466 | c.-34 others(477): Show |
TRIM28 | ENSG00000130726.12 | transcript | ENST00000253024.10 | protein_coding | 2713 | chr19 | TogoVar | |||||||
| TWIST2_chr2_238843085_238915534 | 238871097 | C | CACACACA others(459): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 338 | 0.0030 | 466 | c.*35 others(485): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
| VCX3B_chrX_8459830_8471510 | 8467337 | G | GGGGAGGG others(459): Show |
downstream_gene_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0007 | 1 | 271 | 0.0037 | 466 | c.*95 others(475): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 828 | chrX | TogoVar | |||||||
| ZBTB34_chr9_126855639_126890878 | 126876166 | C | CCCCCCTT others(459): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 | 1 | 246 | 0.0041 | 466 | c.-10 others(483): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| ZDHHC11B_chr5_705355_789729 | 754461 | C | CCTGTGAG others(459): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0025 | 1 | 271 | 0.0037 | 466 | c.503 others(481): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 6/13 | chr5 | TogoVar | |||||||
| ZDHHC11B_chr5_705355_789729 | 754461 | C | CCTGTGAG others(459): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02895.hp2 others(4): Show |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0007 | a0001c0004t0005g0041 a0001c0004t0005g0042 a0001c0004t0005g0045 others(4): Show |
7 | 271 | 0.0258 | 466 | c.503 others(481): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 6/13 | chr5 | TogoVar | |||||||
| ZDHHC11B_chr5_705355_789729 | 754461 | C | CCTGTGAG others(459): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01261.hp1 HG01261.hp2 others(13): Show |
a0001 | a0001c0004a0001c0008a0001c0015others(2): Show | a0001c0004t0005a0001c0004t0012a0001c0004t0044others(5): Show | a0001c0004t0005g0009 a0001c0004t0005g0017 a0001c0004t0005g0037 others(13): Show |
16 | 271 | 0.0590 | 466 | c.503 others(481): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 6/13 | chr5 | TogoVar | |||||||
| ZNF365_chr10_62369369_62407450 | 62370841 | C | CATATATC others(459): Show |
upstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 350 | 0.0029 | 466 | c.-36 others(477): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3527 | chr10 | TogoVar | |||||||
| ZNF681_chr19_23734195_23763891 | 23753117 | A | AGCCAGGC others(459): Show |
intron_variant | MODIFIER | HG00099.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 2 | 394 | 0.0051 | 466 | c.226 others(483): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
| ZNF880_chr19_52364923_52390795 | 52384797 | A | AACCTTAC others(459): Show |
frameshift_variant others(1): Show |
HIGH | HG00438.hp1 | a0002 | a0002c0028 | a0002c0028t0001 | a0002c0028t0001g0084 | 1 | 458 | 0.0022 | 466 | c.123 others(475): Show |
p.Cys others(5): Show |
ZNF880 | ENSG00000221923.9 | transcript | ENST00000422689.3 | protein_coding | 4/4 | 1281/2258 | 1238/1734 | 413/577 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
| ZSCAN32_chr16_3377085_3406004 | 3393202 | T | TTCTATAT others(459): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0271 | 1 | 400 | 0.0025 | 466 | c.532 others(481): Show |
ZSCAN32 | ENSG00000140987.21 | transcript | ENST00000396852.9 | protein_coding | 3/6 | chr16 | TogoVar | |||||||
| ABHD12B_chr14_50867053_50909970 | 50870977 | A | AAGAGAAA others(460): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0201 | 1 | 376 | 0.0027 | 467 | c.-11 others(478): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1075 | chr14 | TogoVar | |||||||
| ABR_chr17_998519_1184981 | 1064407 | A | ACTGTTAT others(460): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0326 | 1 | 337 | 0.0030 | 467 | c.118 others(486): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
| ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(460): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0108 | 1 | 228 | 0.0044 | 467 | c.259 others(488): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
| ADAMTS17_chr15_99966437_100346975 | 100058248 | T | TATCCCGG others(460): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02257.hp2 HG02572.hp2 others(1): Show |
a0001a0002a0005others(1): Show | a0001c0033a0002c0066a0005c0046others(1): Show | a0001c0033t0008a0002c0066t0008a0005c0046t0013others(1): Show | a0001c0033t0008g0208 a0002c0066t0008g0127 a0005c0046t0013g0005 others(1): Show |
4 | 228 | 0.0175 | 467 | c.213 others(486): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar | |||||||
| ADAMTS19_chr5_129455298_129743683 | 129578245 | C | CCTATATG others(460): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0004 | a0004c0007 | a0004c0007t0008 | a0004c0007t0008g0027 | 1 | 226 | 0.0044 | 467 | c.137 others(488): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(460): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 1 | 416 | 0.0024 | 467 | c.*10 others(480): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
| AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(460): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 HG02027.hp1 HG02071.hp1 others(6): Show |
a0001a0007 | a0001c0001a0007c0014 | a0001c0001t0003a0001c0001t0007a0001c0001t0015others(3): Show | a0001c0001t0003g0000 a0001c0001t0007g0000 a0001c0001t0015g0000 others(3): Show |
9 | 416 | 0.0216 | 467 | c.*10 others(480): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
| ANKLE2_chr12_132720503_132766832 | 132729611 | T | TGAGGGGA others(460): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0296 | 1 | 350 | 0.0029 | 467 | c.248 others(482): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
| ANKLE2_chr12_132720503_132766832 | 132729611 | T | TGAGGGGA others(460): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0301 | 1 | 350 | 0.0029 | 467 | c.248 others(482): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
| ANKLE2_chr12_132720503_132766832 | 132729611 | T | TGAGGGGA others(460): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0031 | a0031c0041 | a0031c0041t0001 | a0031c0041t0001g0307 | 1 | 350 | 0.0029 | 467 | c.248 others(482): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
| ANKLE2_chr12_132720503_132766832 | 132729611 | T | TGAGGGGA others(460): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0308 | 1 | 350 | 0.0029 | 467 | c.248 others(482): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
| ANKLE2_chr12_132720503_132766832 | 132729618 | A | AGGGGGAG others(460): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0119 | 1 | 350 | 0.0029 | 467 | c.248 others(482): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
| AP3D1_chr19_2095988_2156566 | 2128705 | C | CCCCACAG others(460): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0345 | 1 | 406 | 0.0025 | 467 | c.806 others(482): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | |||||||
| ARHGAP24_chr4_85470150_86007666 | 85686796 | T | TAAAAAAT others(460): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02897.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0005t0004 | a0001c0002t0002g0005 a0001c0005t0004g0034 |
2 | 108 | 0.0185 | 467 | c.181 others(486): Show |
ARHGAP24 | ENSG00000138639.18 | transcript | ENST00000395184.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| ATP11A_chr13_112685038_112892168 | 112723285 | T | TCCCCACC others(460): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0019 | a0001c0019t0015 | a0001c0019t0015g0147 | 1 | 254 | 0.0039 | 467 | c.39+ others(484): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| ATP9B_chr18_79064394_79383283 | 79309071 | G | GAGGAGTG others(460): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 298 | 0.0034 | 467 | c.177 others(486): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | chr18 | TogoVar | |||||||
| BFSP2_chr3_133395056_133480208 | 133425983 | G | GGGGGAGG others(460): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 276 | 0.0036 | 467 | c.490 others(486): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| CAMKK2_chr12_121232692_121301709 | 121255266 | A | ATATATAT others(460): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0131 | 1 | 330 | 0.0030 | 467 | c.907 others(482): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
| CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(460): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 256 | 0.0039 | 467 | c.-45 others(488): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCTCCT others(460): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 256 | 0.0039 | 467 | c.-45 others(488): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(460): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 1 | 270 | 0.0037 | 467 | c.162 others(488): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(460): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0114 | 1 | 270 | 0.0037 | 467 | c.162 others(488): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| COL27A1_chr9_114150537_114317511 | 114278402 | A | ATGGTGAT others(460): Show |
intron_variant | MODIFIER | HG02809.hp1 NA19043.hp2 |
a0017a0038 | a0017c0052a0038c0132 | a0017c0052t0002a0038c0132t0011 | a0017c0052t0002g0029 a0038c0132t0011g0096 |
2 | 308 | 0.0065 | 467 | c.371 others(486): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 37/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| CPNE7_chr16_89570758_89602246 | 89587957 | T | TACCCACA others(460): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0275 | 1 | 348 | 0.0029 | 467 | c.928 others(482): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| CUL4A_chr13_113204613_113272108 | 113232154 | G | GTCACCAC others(460): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0274 | 1 | 396 | 0.0025 | 467 | c.513 others(484): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | |||||||
| DIP2C_chr10_269201_694668 | 478138 | A | AGAAGGGA others(460): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0077 | 1 | 88 | 0.0114 | 467 | c.158 others(484): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
| DNM2_chr19_10713079_10836903 | 10758443 | T | TTCCTTCC others(460): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0092 | 1 | 278 | 0.0036 | 467 | c.162 others(484): Show |
DNM2 | ENSG00000079805.19 | transcript | ENST00000389253.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| DOCK1_chr10_126900428_127457516 | 126947513 | G | GTGATGGT others(460): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0003 | a0003c0021 | a0003c0021t0003 | a0003c0021t0003g0003 | 1 | 136 | 0.0074 | 467 | c.47- others(484): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| FBN2_chr5_128252909_128543245 | 128540067 | C | CATATATC others(460): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0044 | a0001c0044t0006 | a0001c0044t0006g0026 | 1 | 236 | 0.0042 | 467 | c.-24 others(478): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1823 | chr5 | TogoVar | |||||||
| FLT4_chr5_180596506_180654600 | 180635621 | A | AAGTATGG others(460): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0019 | a0019c0051 | a0019c0051t0001 | a0019c0051t0001g0249 | 1 | 388 | 0.0026 | 467 | c.59- others(482): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | |||||||
| GABRA3_chrX_152161234_152456315 | 152182722 | G | GTATAGTG others(460): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 204 | 0.0049 | 467 | c.114 others(486): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 9/9 | chrX | TogoVar | |||||||
| GABRA3_chrX_152161234_152456315 | 152182722 | G | GTATAGTG others(460): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 204 | 0.0049 | 467 | c.114 others(486): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 9/9 | chrX | TogoVar |