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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEMA4D_chr9_89372235_89503113 | 89462954 | G | GGGAGGGG others(235): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0018 | a0001c0001t0001g0073a0001c0001t0008g0055a0001c0001t0018g0072 | 3 | 370 | 0.0081 | 242 | c.-30 others(261): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 1/15 | chr9 | TogoVar | ||||||
SEMA4D_chr9_89372235_89503113 | 89462954 | G | GGGAGGGG others(235): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00642.hp1 HG01074.hp2 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0064a0001c0001t0001g0070a0001c0001t0001g0089others(31): Show | 34 | 370 | 0.0919 | 242 | c.-30 others(261): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 1/15 | chr9 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156549148 | A | ATTTTTTT others(235): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 150 | 0.0067 | 242 | c.295 others(261): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SIGIRR_chr11_400716_419999 | 401351 | G | GCCCCGCT others(235): Show |
downstream_gene_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 242 | 0.0041 | 242 | c.*45 others(253): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4364 | chr11 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 410982 | C | CGGGGGGT others(235): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 242 | 0.0041 | 242 | c.-15 others(259): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
SLAIN1_chr13_77692687_77769229 | 77704211 | T | TATGTTTT others(235): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 300 | 0.0033 | 242 | c.626 others(259): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SLC12A7_chr5_1045384_1117063 | 1098270 | G | GCCCCCCT others(235): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0002 | 1 | 118 | 0.0085 | 242 | c.125 others(259): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1098270 | G | GCCCCCCT others(235): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01884.hp1 HG02055.hp1 others(2): Show |
a0001 | a0001c0003a0001c0010a0001c0014 | a0001c0003t0003a0001c0010t0005a0001c0014t0003 | a0001c0003t0003g0005a0001c0003t0003g0006a0001c0003t0003g0014others(2): Show | 5 | 118 | 0.0424 | 242 | c.125 others(259): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | ||||||
SLC23A3_chr2_219156465_219175029 | 219159588 | C | CATATATA others(235): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 434 | 0.0023 | 242 | c.*23 others(253): Show |
SLC23A3 | ENSG00000213901.11 | transcript | ENST00000409878.8 | protein_coding | 1876 | chr2 | TogoVar | ||||||
SLC25A23_chr19_6435064_6464792 | 6435425 | T | TAAAAATT others(235): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0159 | 1 | 366 | 0.0027 | 242 | c.*65 others(253): Show |
SLC25A23 | ENSG00000125648.15 | transcript | ENST00000301454.9 | protein_coding | 4638 | chr19 | TogoVar | ||||||
SLC25A41_chr19_6421037_6438763 | 6435425 | T | TAAAAATT others(235): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 350 | 0.0029 | 242 | c.-17 others(253): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 1663 | chr19 | TogoVar | ||||||
SLC35F1_chr6_117902264_118322671 | 117923651 | G | GTATATAT others(235): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 182 | 0.0055 | 242 | c.173 others(261): Show |
SLC35F1 | ENSG00000196376.11 | transcript | ENST00000360388.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SLC35F1_chr6_117902264_118322671 | 117923680 | T | TATGTACA others(235): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0142 | 1 | 182 | 0.0055 | 242 | c.173 others(261): Show |
SLC35F1 | ENSG00000196376.11 | transcript | ENST00000360388.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SLC4A5_chr2_74211242_74348416 | 74330868 | A | AGGTGAGG others(235): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0195 | 1 | 282 | 0.0036 | 242 | c.-69 others(259): Show |
SLC4A5 | ENSG00000188687.18 | transcript | ENST00000394019.7 | protein_coding | 4/30 | chr2 | TogoVar | ||||||
SLC5A9_chr1_48217716_48253638 | 48244736 | A | ATATATAT others(235): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0061a0002c0002t0003g0217a0002c0002t0003g0229 | 3 | 420 | 0.0071 | 242 | c.183 others(261): Show |
SLC5A9 | ENSG00000117834.13 | transcript | ENST00000438567.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLIRP_chr14_77703103_77722598 | 77711224 | A | AATATATA others(235): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 404 | 0.0025 | 242 | c.156 others(257): Show |
SLIRP | ENSG00000119705.10 | transcript | ENST00000557342.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SPATA13_chr13_24155720_24312069 | 24189953 | T | TTATATAT others(235): Show |
intron_variant | MODIFIER | HG02132.hp2 NA18947.hp1 NA19054.hp1 others(1): Show |
a0001 | a0001c0003a0001c0005a0001c0006 | a0001c0003t0020a0001c0005t0017a0001c0005t0046others(1): Show | a0001c0003t0020g0107a0001c0005t0017g0277a0001c0005t0046g0317others(1): Show | 4 | 356 | 0.0112 | 242 | c.-11 others(263): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SPATA13_chr13_24155720_24312069 | 24189953 | T | TTATATAT others(235): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0119 | 1 | 356 | 0.0028 | 242 | c.-11 others(263): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SPATA13_chr13_24155720_24312069 | 24189953 | T | TTATATAT others(235): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0002 | a0001c0002t0117 | a0001c0002t0117g0309 | 1 | 356 | 0.0028 | 242 | c.-11 others(263): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SPDYE4_chr17_8745853_8763546 | 8746874 | C | CCCTTCCC others(235): Show |
downstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 418 | 0.0024 | 242 | c.*54 others(253): Show |
SPDYE4 | ENSG00000183318.12 | transcript | ENST00000689094.1 | protein_coding | 3978 | chr17 | TogoVar | ||||||
ST7_chr7_116948501_117235176 | 117031379 | T | TGTATATA others(235): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 188 | 0.0053 | 242 | c.152 others(261): Show |
ST7 | ENSG00000004866.22 | transcript | ENST00000323984.8 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
ST7_chr7_116948501_117235176 | 117031379 | T | TGTATATA others(235): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02071.hp2 HG02683.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0023others(4): Show | 7 | 188 | 0.0372 | 242 | c.152 others(261): Show |
ST7 | ENSG00000004866.22 | transcript | ENST00000323984.8 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
ST7_chr7_116948501_117235176 | 117031379 | T | TGTATATA others(235): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02040.hp2 NA18960.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0009others(4): Show | 7 | 188 | 0.0372 | 242 | c.152 others(261): Show |
ST7 | ENSG00000004866.22 | transcript | ENST00000323984.8 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
STX8_chr17_9245471_9580820 | 9429804 | T | TATATTAT others(235): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01993.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0124a0001c0004t0001g0175 | 2 | 188 | 0.0106 | 242 | c.542 others(261): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1628391 | C | CAGGGGTG others(235): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0097 | 1 | 352 | 0.0028 | 242 | c.299 others(257): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1272715 | A | ACACATCA others(235): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0090 | 1 | 392 | 0.0026 | 242 | c.228 others(259): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1272891 | A | ACATCAGA others(235): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0032 | 1 | 392 | 0.0026 | 242 | c.228 others(259): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1272957 | C | CCACAGTC others(235): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073 | 1 | 392 | 0.0026 | 242 | c.228 others(259): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273056 | C | CACGACCG others(235): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 1 | 392 | 0.0026 | 242 | c.228 others(259): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273788 | C | CCGCCATC others(235): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 392 | 0.0026 | 242 | c.228 others(261): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1284952 | A | AGACCTGC others(235): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0374 | 1 | 392 | 0.0026 | 242 | c.157 others(261): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | ||||||
THBS3_chr1_155190588_155212897 | 155190623 | G | GTCCGGGG others(235): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 298 | 0.0034 | 242 | c.*52 others(253): Show |
THBS3 | ENSG00000169231.13 | transcript | ENST00000368378.7 | protein_coding | 4964 | chr1 | TogoVar | ||||||
THBS3_chr1_155190588_155212897 | 155190951 | G | GTGTCCGG others(235): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0010 | 2 | 298 | 0.0067 | 242 | c.*48 others(253): Show |
THBS3 | ENSG00000169231.13 | transcript | ENST00000368378.7 | protein_coding | 4636 | chr1 | TogoVar | ||||||
THBS3_chr1_155190588_155212897 | 155191105 | C | CGCGGTGG others(235): Show |
downstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 298 | 0.0034 | 242 | c.*47 others(253): Show |
THBS3 | ENSG00000169231.13 | transcript | ENST00000368378.7 | protein_coding | 4482 | chr1 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747867 | T | TGGGAGGC others(235): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0191 | 1 | 314 | 0.0032 | 242 | c.189 others(257): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TNNT1_chr19_55127698_55154206 | 55134793 | G | GGGAGGGA others(235): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0004 | a0004c0009 | a0004c0009t0002 | a0004c0009t0002g0268 | 1 | 320 | 0.0031 | 242 | c.612 others(257): Show |
TNNT1 | ENSG00000105048.18 | transcript | ENST00000588981.6 | protein_coding | 11/13 | chr19 | TogoVar | ||||||
TNNT1_chr19_55127698_55154206 | 55134793 | G | GGGAGGGG others(235): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 320 | 0.0031 | 242 | c.612 others(257): Show |
TNNT1 | ENSG00000105048.18 | transcript | ENST00000588981.6 | protein_coding | 11/13 | chr19 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930745 | G | GTTAGGGA others(235): Show |
downstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 466 | 0.0022 | 242 | c.*48 others(253): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4624 | chr11 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930835 | G | GTTAGGGA others(235): Show |
downstream_gene_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0031 | 1 | 466 | 0.0022 | 242 | c.*47 others(253): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4534 | chr11 | TogoVar | ||||||
TRIML1_chr4_188134441_188152743 | 188151871 | A | AGAGTGGG others(235): Show |
downstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0022 | 1 | 228 | 0.0044 | 242 | c.*44 others(253): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4129 | chr4 | TogoVar | ||||||
TSPEAR_chr21_44492893_44716572 | 44503491 | T | TCTGGGAG others(235): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 294 | 0.0034 | 242 | c.185 others(261): Show |
TSPEAR | ENSG00000175894.18 | transcript | ENST00000323084.9 | protein_coding | 11/11 | chr21 | TogoVar | ||||||
TUBA8_chr22_18105809_18136732 | 18106531 | T | TGAGTCTG others(235): Show |
upstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0278 | 1 | 426 | 0.0024 | 242 | c.-43 others(253): Show |
TUBA8 | ENSG00000183785.16 | transcript | ENST00000330423.8 | protein_coding | 4277 | chr22 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870178 | A | ACACACCC others(235): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 338 | 0.0030 | 242 | c.*35 others(261): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238870189 | A | ACCCCATA others(235): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02886.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0311a0001c0001t0001g0333a0001c0001t0003g0310 | 3 | 338 | 0.0089 | 242 | c.*35 others(261): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238870227 | A | ACACCCCA others(235): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0098 | 1 | 338 | 0.0030 | 242 | c.*35 others(261): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238870803 | A | ACACACAC others(235): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0306 | 1 | 338 | 0.0030 | 242 | c.*35 others(261): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
UBE4A_chr11_118354600_118404211 | 118355868 | T | TATATACA others(235): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 320 | 0.0031 | 242 | c.-38 others(253): Show |
UBE4A | ENSG00000110344.10 | transcript | ENST00000252108.8 | protein_coding | 3731 | chr11 | TogoVar | ||||||
UBE4A_chr11_118354600_118404211 | 118355868 | T | TATATACA others(235): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0163 | 1 | 320 | 0.0031 | 242 | c.-38 others(253): Show |
UBE4A | ENSG00000110344.10 | transcript | ENST00000252108.8 | protein_coding | 3731 | chr11 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7679372 | T | TACATGTT others(235): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02080.hp2 HG02132.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0009others(7): Show | a0001c0001t0003g0181a0001c0001t0006g0184a0001c0001t0009g0185others(8): Show | 11 | 250 | 0.0440 | 242 | c.82+ others(257): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
UNG_chr12_109092597_109115992 | 109106892 | C | CATATATA others(235): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 452 | 0.0022 | 242 | c.802 others(259): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |