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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TIGIT_chr3_114289028_114315288 | 114303564 | CATATATA others(57): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01070.hp2 HG01243.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0119a0001c0001t0002g0120a0001c0001t0002g0225others(3): Show | 6 | 424 | 0.0142 | -64 | c.498 others(81): Show |
TIGIT | ENSG00000181847.12 | transcript | ENST00000383671.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TLN2_chr15_62385550_62849631 | 62683404 | TGCCTCTC others(57): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00735.hp2 others(20): Show |
a0001a0002a0012 | a0001c0001a0001c0005a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0029a0001c0001t0034others(12): Show | a0001c0001t0001g0019a0001c0001t0001g0023a0001c0001t0001g0028others(20): Show | 23 | 144 | 0.1597 | -64 | c.958 others(81): Show |
TLN2 | ENSG00000171914.17 | transcript | ENST00000636159.2 | protein_coding | 11/58 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
TMC5_chr16_19412883_19504113 | 19465029 | TTCTTTCT others(57): Show |
T | intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0135 | 1 | 336 | 0.0030 | -64 | c.148 others(82): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC5_chr16_19412883_19504113 | 19465033 | TTCTTTCT others(57): Show |
T | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0206 | 1 | 336 | 0.0030 | -64 | c.148 others(82): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC6_chr17_78102397_78133755 | 78123548 | GATGGGTG others(57): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02647.hp2 HG02717.hp1 others(7): Show |
a0001a0017a0019 | a0001c0001a0017c0032a0019c0028 | a0001c0001t0007a0001c0001t0008a0001c0001t0013others(4): Show | a0001c0001t0007g0081a0001c0001t0008g0089a0001c0001t0013g0083others(7): Show | 10 | 444 | 0.0225 | -64 | c.108 others(81): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 9/19 | chr17 | TogoVar | ||||||
TMCO3_chr13_113486021_113555229 | 113506313 | GGCTGTTA others(57): Show |
G | intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 368 | 0.0027 | -64 | c.103 others(83): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
TMCO6_chr5_140634451_140650404 | 140649945 | ATTTTTGC others(57): Show |
A | downstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 406 | 0.0025 | -64 | c.*48 others(75): Show |
TMCO6 | ENSG00000113119.13 | transcript | ENST00000394671.8 | protein_coding | 4542 | chr5 | TogoVar | ||||||
TMEM106C_chr12_47958596_47973878 | 47971790 | TTATTATA others(57): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00597.hp2 others(98): Show |
a0002a0008a0009 | a0002c0002a0008c0010a0009c0014 | a0002c0002t0001a0002c0002t0002a0008c0010t0002others(1): Show | a0002c0002t0001g0001a0002c0002t0001g0025a0002c0002t0002g0001others(8): Show | 101 | 422 | 0.2393 | -64 | c.*35 others(75): Show |
TMEM106C | ENSG00000134291.12 | transcript | ENST00000429772.7 | protein_coding | 2913 | chr12 | TogoVar | ||||||
TMEM108_chr3_133033391_133402775 | 133357512 | ATATGAAA others(57): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0005 | a0005c0010 | a0005c0010t0002 | a0005c0010t0002g0127 | 1 | 220 | 0.0046 | -64 | c.41- others(81): Show |
TMEM108 | ENSG00000144868.14 | transcript | ENST00000321871.11 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TMEM120B_chr12_121707752_121787068 | 121747895 | GCTGGGGT others(57): Show |
G | intron_variant | MODIFIER | HG02965.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0149a0001c0001t0009g0289 | 2 | 314 | 0.0064 | -64 | c.189 others(79): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM131L_chr4_153461360_153641711 | 153626574 | AATGAAAC others(57): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0096 | 1 | 248 | 0.0040 | -64 | c.412 others(81): Show |
TMEM131L | ENSG00000121210.16 | transcript | ENST00000409959.8 | protein_coding | 30/34 | chr4 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129856701 | TTGTAACG others(57): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG02040.hp2 HG03831.hp1 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0039a0001c0001t0003g0085a0001c0001t0005g0037others(3): Show | 6 | 94 | 0.0638 | -64 | c.79+ others(81): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
TMEM150B_chr19_55307801_55330341 | 55308775 | CGTGGGTG others(57): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 352 | 0.0028 | -64 | c.*40 others(75): Show |
TMEM150B | ENSG00000180061.10 | transcript | ENST00000326652.9 | protein_coding | 4025 | chr19 | TogoVar | ||||||
TMEM150B_chr19_55307801_55330341 | 55328810 | ATGCCTCA others(57): Show |
A | upstream_gene_variant | MODIFIER | HG02258.hp1 NA18960.hp2 NA19004.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0026a0001c0001t0002g0097a0001c0001t0002g0115others(1): Show | 5 | 352 | 0.0142 | -64 | c.-37 others(75): Show |
TMEM150B | ENSG00000180061.10 | transcript | ENST00000326652.9 | protein_coding | 3470 | chr19 | TogoVar | ||||||
TMEM255B_chr13_113754226_113821995 | 113790408 | GGACATCC others(57): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02572.hp2 HG02922.hp1 others(3): Show |
a0001a0002 | a0001c0006a0002c0003 | a0001c0006t0016a0001c0006t0163a0002c0003t0127others(1): Show | a0001c0006t0016g0010a0001c0006t0016g0095a0001c0006t0016g0096others(3): Show | 6 | 260 | 0.0231 | -64 | c.253 others(81): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
TMEM87B_chr2_112050269_112124314 | 112054825 | CGCCCCGC others(57): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00738.hp1 HG00741.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0189a0001c0001t0001g0190others(17): Show | 20 | 316 | 0.0633 | -64 | c.-76 others(73): Show |
TMEM87B | ENSG00000153214.11 | transcript | ENST00000283206.9 | protein_coding | 443 | chr2 | TogoVar | ||||||
TNC_chr9_115014575_115123157 | 115069662 | CCCTCCCT others(57): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0053 | a0053c0104 | a0053c0104t0028 | a0053c0104t0028g0341 | 1 | 366 | 0.0027 | -64 | c.321 others(83): Show |
TNC | ENSG00000041982.17 | transcript | ENST00000350763.9 | protein_coding | 10/27 | chr9 | TogoVar | ||||||
TNS1_chr2_217794791_218007995 | 217809464 | GATGGATG others(57): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01358.hp2 HG01891.hp1 others(5): Show |
a0001a0003a0016 | a0001c0002a0001c0006a0001c0018others(3): Show | a0001c0002t0003a0001c0002t0006a0001c0002t0010others(5): Show | a0001c0002t0003g0033a0001c0002t0006g0203a0001c0002t0010g0136others(5): Show | 8 | 244 | 0.0328 | -64 | c.527 others(81): Show |
TNS1 | ENSG00000079308.21 | transcript | ENST00000682258.1 | protein_coding | 30/32 | chr2 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930549 | AGGGAGAC others(57): Show |
A | downstream_gene_variant | MODIFIER | NA18963.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0122 | 1 | 466 | 0.0022 | -64 | c.*49 others(75): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4820 | chr11 | TogoVar | ||||||
TP53INP1_chr8_94920972_94954378 | 94952871 | GCGGGCCC others(57): Show |
G | upstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0285 | 1 | 360 | 0.0028 | -64 | c.-39 others(75): Show |
TP53INP1 | ENSG00000164938.14 | transcript | ENST00000342697.5 | protein_coding | 3494 | chr8 | TogoVar | ||||||
TPD52L1_chr6_125148773_125269407 | 125260960 | GAAAGAAA others(57): Show |
G | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 320 | 0.0031 | -64 | c.487 others(81): Show |
TPD52L1 | ENSG00000111907.21 | transcript | ENST00000534000.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1445617 | ATGTTGGA others(57): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0123 | 1 | 130 | 0.0077 | -64 | c.483 others(81): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPST2_chr22_26516996_26595132 | 26522984 | CCAGGAGT others(57): Show |
C | 3_prime_UTR_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0005 | a0001c0005t0038 | a0001c0005t0038g0215 | 1 | 400 | 0.0025 | -64 | c.*32 others(75): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 7/7 | 5173 | chr22 | TogoVar | |||||
TRANK1_chr3_36821819_36950054 | 36918502 | AGAAAGAA others(57): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0327 | 1 | 330 | 0.0030 | -64 | c.24- others(81): Show |
TRANK1 | ENSG00000168016.15 | transcript | ENST00000645898.2 | protein_coding | 1/23 | chr3 | TogoVar | ||||||
TRAPPC5_chr19_7675833_7692703 | 7688879 | GCATCTGG others(57): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00642.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0008a0001c0004t0008a0002c0003t0004others(2): Show | a0001c0001t0008g0013a0001c0004t0008g0004a0002c0003t0004g0003others(3): Show | 26 | 454 | 0.0573 | -64 | c.*60 others(75): Show |
TRAPPC5 | ENSG00000181029.9 | transcript | ENST00000596148.3 | protein_coding | 1177 | chr19 | TogoVar | ||||||
TRAPPC9_chr8_139722725_140462744 | 140157272 | CTTTTCCA others(57): Show |
C | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0027 | a0001c0027t0012 | a0001c0027t0012g0012 | 1 | 98 | 0.0102 | -64 | c.255 others(85): Show |
TRAPPC9 | ENSG00000167632.18 | transcript | ENST00000438773.4 | protein_coding | 17/22 | chr8 | TogoVar | ||||||
TRAPPC9_chr8_139722725_140462744 | 140199505 | TCTACGCC others(57): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(94): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(58): Show | a0001c0001t0001g0053a0001c0001t0001g0054a0001c0001t0001g0058others(94): Show | 97 | 98 | 0.9898 | -64 | c.255 others(85): Show |
TRAPPC9 | ENSG00000167632.18 | transcript | ENST00000438773.4 | protein_coding | 17/22 | chr8 | TogoVar | ||||||
TRHDE_chr12_72267370_72675758 | 72380702 | CCTTCCTT others(57): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02717.hp2 HG02886.hp1 others(1): Show |
a0002a0003 | a0002c0004a0003c0006 | a0002c0004t0002a0002c0004t0008a0003c0006t0021others(1): Show | a0002c0004t0002g0044a0002c0004t0008g0040a0003c0006t0021g0023others(1): Show | 4 | 158 | 0.0253 | -64 | c.131 others(83): Show |
TRHDE | ENSG00000072657.10 | transcript | ENST00000261180.10 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TRIM46_chr1_155168849_155189970 | 155189136 | GACACTGT others(57): Show |
G | downstream_gene_variant | MODIFIER | HG02602.hp1 NA18955.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0002t0001g0002 | 2 | 348 | 0.0058 | -64 | c.*49 others(75): Show |
TRIM46 | ENSG00000163462.19 | transcript | ENST00000334634.9 | protein_coding | 4167 | chr1 | TogoVar | ||||||
TRIM61_chr4_164963281_164982657 | 164965775 | TTTCCCAA others(57): Show |
T | downstream_gene_variant | MODIFIER | HG01981.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0003 | 1 | 408 | 0.0025 | -64 | c.*27 others(75): Show |
TRIM61 | ENSG00000183439.10 | transcript | ENST00000710271.1 | protein_coding | 2505 | chr4 | TogoVar | ||||||
TRPC4AP_chr20_34997404_35097807 | 35084580 | ATATGTTT others(57): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG01074.hp2 HG01081.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009 | a0001c0001t0001g0003a0001c0001t0001g0055a0001c0001t0001g0294others(36): Show | 40 | 334 | 0.1198 | -64 | c.169 others(81): Show |
TRPC4AP | ENSG00000100991.12 | transcript | ENST00000252015.3 | protein_coding | 1/18 | chr20 | TogoVar | ||||||
TRPC6_chr11_101446564_101589007 | 101558204 | TGTATACA others(57): Show |
T | intron_variant | MODIFIER | HG02735.hp2 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083a0001c0001t0001g0093 | 2 | 252 | 0.0079 | -64 | c.170 others(83): Show |
TRPC6 | ENSG00000137672.13 | transcript | ENST00000344327.8 | protein_coding | 1/12 | chr11 | TogoVar | ||||||
TRPM4_chr19_49152792_49216836 | 49173011 | AAATTCCA others(57): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG01255.hp1 HG02080.hp2 others(17): Show |
a0001a0002a0020 | a0001c0001a0001c0002a0001c0036others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0310a0001c0002t0001g0089a0001c0002t0001g0090others(17): Show | 20 | 312 | 0.0641 | -64 | c.115 others(81): Show |
TRPM4 | ENSG00000130529.16 | transcript | ENST00000252826.10 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TSPAN11_chr12_30921748_31001599 | 30957729 | CTCCTTCC others(57): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00673.hp1 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0006a0001c0001t0022a0001c0001t0059others(18): Show | a0001c0001t0006g0189a0001c0001t0006g0190a0001c0001t0022g0051others(24): Show | 27 | 394 | 0.0685 | -64 | c.84+ others(79): Show |
TSPAN11 | ENSG00000110900.16 | transcript | ENST00000546076.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TSPAN11_chr12_30921748_31001599 | 30957773 | TTCCCTCC others(57): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG03516.hp1 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0002a0002c0004t0014 | a0002c0002t0002g0184a0002c0004t0014g0195 | 2 | 394 | 0.0051 | -64 | c.84+ others(79): Show |
TSPAN11 | ENSG00000110900.16 | transcript | ENST00000546076.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TSPEAR_chr21_44492893_44716572 | 44503382 | TCGGCGGG others(57): Show |
T | intron_variant | MODIFIER | HG03540.hp2 HG06807.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0007a0001c0004t0010 | a0001c0001t0007g0009a0001c0004t0010g0088 | 2 | 294 | 0.0068 | -64 | c.185 others(83): Show |
TSPEAR | ENSG00000175894.18 | transcript | ENST00000323084.9 | protein_coding | 11/11 | chr21 | TogoVar | ||||||
TTC29_chr4_146701617_146950864 | 146728753 | ATATATGT others(57): Show |
A | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0193 | 1 | 292 | 0.0034 | -64 | c.133 others(85): Show |
TTC29 | ENSG00000137473.19 | transcript | ENST00000325106.9 | protein_coding | 11/12 | chr4 | TogoVar | ||||||
TTLL13_chr15_90244556_90270477 | 90256566 | TTTCTTTC others(57): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(190): Show |
a0002a0004a0005others(4): Show | a0002c0002a0002c0015a0002c0016others(6): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0009others(11): Show | a0002c0002t0002g0002a0002c0002t0002g0006a0002c0002t0002g0009others(129): Show | 193 | 432 | 0.4468 | -64 | c.705 others(79): Show |
TTLL13 | ENSG00000213471.10 | transcript | ENST00000641754.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
TTLL1_chr22_43034516_43094391 | 43079011 | GCACCCCA others(57): Show |
G | intron_variant | MODIFIER | HG02630.hp1 HG02630.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0005 | a0001c0001t0001g0197a0001c0002t0005g0198 | 2 | 360 | 0.0056 | -64 | c.-5+ others(77): Show |
TTLL1 | ENSG00000100271.17 | transcript | ENST00000266254.12 | protein_coding | 2/10 | chr22 | TogoVar | ||||||
TULP4_chr6_158307465_158516828 | 158491444 | TTCTTTCT others(57): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00597.hp1 others(39): Show |
a0001a0003a0006others(1): Show | a0001c0002a0001c0008a0001c0009others(7): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0010others(13): Show | a0001c0002t0001g0009a0001c0002t0001g0015a0001c0002t0001g0018others(39): Show | 42 | 268 | 0.1567 | -64 | c.163 others(83): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TXNDC8_chr9_110298476_110342863 | 110309923 | AAAAGTGG others(57): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01169.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0142a0001c0001t0001g0146a0001c0001t0001g0147others(10): Show | 13 | 416 | 0.0313 | -64 | c.196 others(81): Show |
TXNDC8 | ENSG00000204193.12 | transcript | ENST00000423740.7 | protein_coding | 3/4 | chr9 | TogoVar | ||||||
UBL3_chr13_29759371_29855617 | 29835075 | AATATATA others(57): Show |
A | intron_variant | MODIFIER | NA18968.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0342a0001c0001t0005g0343 | 2 | 392 | 0.0051 | -64 | c.27+ others(81): Show |
UBL3 | ENSG00000122042.10 | transcript | ENST00000380680.5 | protein_coding | 1/4 | chr13 | TogoVar | ||||||
UBL3_chr13_29759371_29855617 | 29835089 | AATATATA others(57): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01070.hp2 HG01433.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0015 | a0001c0001t0001g0184a0001c0001t0002g0257a0001c0001t0002g0267others(6): Show | 9 | 392 | 0.0230 | -64 | c.27+ others(81): Show |
UBL3 | ENSG00000122042.10 | transcript | ENST00000380680.5 | protein_coding | 1/4 | chr13 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917257 | TGTGGGAC others(57): Show |
T | intron_variant | MODIFIER | NA18947.hp2 NA18982.hp1 NA18983.hp2 others(1): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0010a0001c0005t0001 | a0001c0003t0010g0003a0001c0005t0001g0149 | 4 | 344 | 0.0116 | -64 | c.218 others(80): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
UPF3A_chr13_114276601_114310817 | 114295302 | GCTGGCCT others(57): Show |
G | intron_variant | MODIFIER | HG02027.hp1 HG02080.hp2 HG02165.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0100a0001c0001t0001g0144others(2): Show | 7 | 450 | 0.0156 | -64 | c.846 others(81): Show |
UPF3A | ENSG00000169062.15 | transcript | ENST00000375299.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
UPF3A_chr13_114276601_114310817 | 114295308 | CTGCTCCC others(57): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0132 | 1 | 450 | 0.0022 | -64 | c.847 others(81): Show |
UPF3A | ENSG00000169062.15 | transcript | ENST00000375299.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
UPF3A_chr13_114276601_114310817 | 114295331 | AGCTCTGG others(57): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 2 | 450 | 0.0044 | -64 | c.847 others(81): Show |
UPF3A | ENSG00000169062.15 | transcript | ENST00000375299.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
UROC1_chr3_126476166_126522773 | 126515511 | TACCCACC others(57): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00673.hp1 others(17): Show |
a0001a0008a0012 | a0001c0001a0001c0002a0008c0009others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0012others(3): Show | a0001c0001t0002g0178a0001c0001t0002g0200a0001c0001t0002g0221others(13): Show | 20 | 380 | 0.0526 | -64 | c.126 others(81): Show |
UROC1 | ENSG00000159650.9 | transcript | ENST00000290868.7 | protein_coding | 1/19 | chr3 | TogoVar | ||||||
USH2A_chr1_215617891_216428448 | 215912449 | ATGTGTAT others(57): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0032 | a0032c0047 | a0032c0047t0003 | a0032c0047t0003g0017 | 1 | 74 | 0.0135 | -64 | c.730 others(85): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 38/71 | chr1 | TogoVar | ||||||
USO1_chr4_75719577_75819286 | 75726293 | AAAAAAAA others(57): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG01928.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142a0001c0001t0001g0143 | 2 | 288 | 0.0069 | -64 | c.66+ others(79): Show |
USO1 | ENSG00000138768.15 | transcript | ENST00000514213.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |