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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2508): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0112 | 1 | 116 | 0.0086 | 2515 | c.522 others(2532): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2508): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03225.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0031 a0001c0001t0003g0041 a0001c0001t0003g0042 |
3 | 116 | 0.0259 | 2515 | c.522 others(2532): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2508): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0044 | a0044c0051 | a0044c0051t0001 | a0044c0051t0001g0046 | 1 | 292 | 0.0034 | 2515 | c.218 others(2530): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
TECTA_chr11_121096243_121196490 | 121186127 | T | TAATGAAT others(2508): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0147 | 1 | 348 | 0.0029 | 2515 | c.600 others(2534): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771927 | A | AGGGAGGG others(2508): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0207 | 1 | 272 | 0.0037 | 2515 | c.389 others(2534): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ANO2_chr12_5557655_5950259 | 5931666 | A | ATAGACTA others(2509): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0007 | a0007c0014 | a0007c0014t0001 | a0007c0014t0001g0045 a0007c0014t0001g0046 |
2 | 162 | 0.0124 | 2516 | c.23- others(2531): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5932365 | A | AAAGGAAA others(2509): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0058 | 1 | 162 | 0.0062 | 2516 | c.23- others(2531): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5932365 | A | AAAGGAAA others(2509): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0121 | 1 | 162 | 0.0062 | 2516 | c.23- others(2531): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5932625 | C | CTAGTAAG others(2509): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01358.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073 a0001c0002t0001g0085 |
2 | 162 | 0.0124 | 2516 | c.23- others(2531): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2509): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 334 | 0.0030 | 2516 | c.147 others(2533): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2509): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0025 | 1 | 334 | 0.0030 | 2516 | c.147 others(2533): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2509): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0050 | 1 | 432 | 0.0023 | 2516 | c.103 others(2533): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 425297 | C | CAGAAGCT others(2509): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0395 | 1 | 432 | 0.0023 | 2516 | c.414 others(2533): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2509): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG03195.hp1 |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0005 | a0002c0002t0004g0022 a0002c0002t0004g0079 a0002c0002t0005g0078 |
3 | 364 | 0.0082 | 2516 | c.445 others(2531): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MTG1_chr10_133389157_133427520 | 133397401 | T | TACCGGTC others(2509): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0244 | 1 | 428 | 0.0023 | 2516 | c.283 others(2533): Show |
MTG1 | ENSG00000148824.19 | transcript | ENST00000317502.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRXL2C_chr9_96634577_96660317 | 96660146 | C | CAAAAAAA others(2509): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 290 | 0.0035 | 2516 | c.-48 others(2527): Show |
PRXL2C | ENSG00000158122.12 | transcript | ENST00000375234.8 | protein_coding | 4830 | chr9 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1741407 | A | AGGACAGT others(2509): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 HG01192.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0020 a0002c0002t0004g0070 |
2 | 445 | 0.0045 | 2516 | c.-15 others(2527): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1463 | chr17 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870169 | A | ACACCCCA others(2509): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 338 | 0.0030 | 2516 | c.*35 others(2535): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
WDR81_chr17_1719704_1743585 | 1741407 | A | AGGACAGT others(2509): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 HG01192.hp1 |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0002 | 2 | 431 | 0.0046 | 2516 | c.*37 others(2527): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 2823 | chr17 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2510): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0135 | 1 | 418 | 0.0024 | 2517 | c.96+ others(2532): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2510): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 334 | 0.0030 | 2517 | c.147 others(2534): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2510): Show |
intron_variant | MODIFIER | HG02148.hp2 NA18992.hp1 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0028 a0002c0004t0001g0028 |
2 | 432 | 0.0046 | 2517 | c.103 others(2534): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2510): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0220 | 1 | 432 | 0.0023 | 2517 | c.103 others(2534): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2510): Show |
intron_variant | MODIFIER | HG01071.hp1 NA18974.hp2 homoSapiens_chm13v2.hp1 |
a0002a0007 | a0002c0003a0007c0010 | a0002c0003t0001a0007c0010t0001 | a0002c0003t0001g0132 a0002c0003t0001g0226 a0007c0010t0001g0147 |
3 | 432 | 0.0069 | 2517 | c.103 others(2534): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2510): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01943.hp2 HG02970.hp2 others(2): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0001 | a0002c0002t0001g0086 a0002c0003t0001g0014 a0002c0003t0001g0133 |
5 | 432 | 0.0116 | 2517 | c.103 others(2534): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20357749 | C | CAGTGTGC others(2510): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0041 | 1 | 236 | 0.0042 | 2517 | c.351 others(2536): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2510): Show |
upstream_gene_variant | MODIFIER | NA18952.hp1 NA18999.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 3 | 301 | 0.0100 | 2517 | c.-11 others(2528): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2510): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0107 | 1 | 116 | 0.0086 | 2517 | c.522 others(2534): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MTG1_chr10_133389157_133427520 | 133397401 | T | TACCGGTC others(2510): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0243 | 1 | 428 | 0.0023 | 2517 | c.283 others(2534): Show |
MTG1 | ENSG00000148824.19 | transcript | ENST00000317502.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2510): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0150 | 1 | 272 | 0.0037 | 2517 | c.389 others(2536): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2511): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0295 | 1 | 434 | 0.0023 | 2518 | c.16+ others(2533): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2511): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0325 | 1 | 434 | 0.0023 | 2518 | c.16+ others(2533): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2511): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0091 | 1 | 432 | 0.0023 | 2518 | c.103 others(2535): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2511): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01358.hp2 HG01943.hp1 others(8): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0005 a0002c0004t0001g0005 a0002c0004t0001g0038 others(1): Show |
11 | 432 | 0.0255 | 2518 | c.103 others(2535): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2511): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0225 | 1 | 432 | 0.0023 | 2518 | c.103 others(2535): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2511): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0229 | 1 | 432 | 0.0023 | 2518 | c.103 others(2535): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2511): Show |
intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01069.hp1 others(30): Show |
a0002a0004 | a0002c0002a0002c0003a0004c0009 | a0002c0002t0001a0002c0003t0001a0004c0009t0001 | a0002c0002t0001g0031 a0002c0002t0001g0077 a0002c0002t0001g0084 others(22): Show |
33 | 432 | 0.0764 | 2518 | c.103 others(2535): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2511): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0292 | 1 | 432 | 0.0023 | 2518 | c.103 others(2535): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2511): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03834.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0230 a0002c0002t0001g0287 |
2 | 432 | 0.0046 | 2518 | c.103 others(2535): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2511): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0159 | 1 | 432 | 0.0023 | 2518 | c.103 others(2535): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2511): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0227 | 1 | 432 | 0.0023 | 2518 | c.103 others(2535): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 425298 | A | AGAAGCTG others(2511): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0330 | 1 | 432 | 0.0023 | 2518 | c.414 others(2535): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2511): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 316 | 0.0032 | 2518 | c.44- others(2531): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EFCAB12_chr3_129396321_129433636 | 129404496 | T | TTTAATTC others(2511): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0015 | a0015c0022 | a0015c0022t0002 | a0015c0022t0002g0196 | 1 | 386 | 0.0026 | 2518 | c.125 others(2533): Show |
EFCAB12 | ENSG00000172771.13 | transcript | ENST00000505956.6 | protein_coding | 6/8 | chr3 | TogoVar | |||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(2511): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0123 | 1 | 395 | 0.0025 | 2518 | c.*69 others(2529): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2511): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0048 | 1 | 301 | 0.0033 | 2518 | c.-11 others(2529): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(2511): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 367 | 0.0027 | 2518 | c.4-1 others(2531): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
SAR1B_chr5_134596149_134637828 | 134619330 | C | CAAAAAAA others(2511): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0164 | 1 | 322 | 0.0031 | 2518 | c.178 others(2535): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
SAR1B_chr5_134596149_134637828 | 134619331 | A | AAAAAAAA others(2511): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 322 | 0.0031 | 2518 | c.178 others(2535): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
WDR81_chr17_1719704_1743585 | 1740975 | A | AGGAGCCT others(2511): Show |
downstream_gene_variant | MODIFIER | NA19002.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0002 | 1 | 431 | 0.0023 | 2518 | c.*32 others(2529): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 2391 | chr17 | TogoVar |