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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SYNE1_chr6_152116687_152642362 | 152139717 | A | AAAAGAAA others(39): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0006 | a0006c0082 | a0006c0082t0006 | a0006c0082t0006g0155 | 1 | 174 | 0.0058 | 46 | c.254 others(65): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 140/145 | chr6 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63408340 | G | GAAAGAAA others(39): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 246 | 0.0041 | 46 | c.85- others(63): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SYT14_chr1_209933217_210176315 | 210071264 | G | GTAAGTAG others(39): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02257.hp2 HG02886.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0038a0001c0001t0039others(1): Show | a0001c0001t0022g0351a0001c0001t0022g0352a0001c0001t0022g0353others(4): Show | 7 | 358 | 0.0196 | 46 | c.443 others(65): Show |
SYT14 | ENSG00000143469.21 | transcript | ENST00000367019.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SYT1_chr12_78859774_79457008 | 79179526 | G | GATATAGA others(39): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0023 | 1 | 62 | 0.0161 | 46 | c.-17 others(65): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SYT5_chr19_55166196_55185289 | 55168406 | T | TATATATA others(39): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0012 | 1 | 410 | 0.0024 | 46 | c.*50 others(57): Show |
SYT5 | ENSG00000129990.15 | transcript | ENST00000354308.8 | protein_coding | 2789 | chr19 | TogoVar | ||||||
TACR2_chr10_69398903_69421918 | 69409898 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 382 | 0.0026 | 46 | c.588 others(61): Show |
TACR2 | ENSG00000075073.16 | transcript | ENST00000373306.5 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
TADA3_chr3_9774967_9797473 | 9796939 | T | TTCTTCGT others(39): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 410 | 0.0024 | 46 | c.-47 others(57): Show |
TADA3 | ENSG00000171148.14 | transcript | ENST00000301964.7 | protein_coding | 4467 | chr3 | TogoVar | ||||||
TAF11L2_chr5_17493231_17503827 | 17493385 | C | CATATATA others(39): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG03492.hp2 HG03688.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0000 | a0001c0002t0000g0000 | 5 | 399 | 0.0125 | 46 | c.-48 others(57): Show |
TAF11L2 | ENSG00000284373.1 | transcript | ENST00000639081.1 | protein_coding | 4845 | chr5 | TogoVar | ||||||
TAF3_chr10_7813505_8021631 | 7871435 | C | CTTTTTTT others(39): Show |
intron_variant | MODIFIER | HG01346.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268a0001c0001t0001g0269 | 2 | 344 | 0.0058 | 46 | c.409 others(65): Show |
TAF3 | ENSG00000165632.9 | transcript | ENST00000344293.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
TAFA1_chr3_67999247_68550621 | 68120229 | C | CTTTCTTT others(39): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0005 | 1 | 156 | 0.0064 | 46 | c.118 others(67): Show |
TAFA1 | ENSG00000183662.12 | transcript | ENST00000478136.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TAFA1_chr3_67999247_68550621 | 68370476 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0108 | 1 | 156 | 0.0064 | 46 | c.119 others(65): Show |
TAFA1 | ENSG00000183662.12 | transcript | ENST00000478136.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TAFA5_chr22_48484553_48756932 | 48679420 | G | GGGCTCCC others(39): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0144 | 1 | 258 | 0.0039 | 46 | c.263 others(65): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TAFA5_chr22_48484553_48756932 | 48679426 | C | CCCGTCCA others(39): Show |
intron_variant | MODIFIER | HG02976.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0206a0001c0001t0004g0020 | 2 | 258 | 0.0078 | 46 | c.263 others(65): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TAFA5_chr22_48484553_48756932 | 48679449 | C | CCCGTCCA others(39): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 258 | 0.0039 | 46 | c.263 others(65): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TAFA5_chr22_48484553_48756932 | 48679558 | C | CGACTCCC others(39): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03130.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014a0001c0001t0018 | a0001c0001t0002g0096a0001c0001t0014g0052a0001c0001t0018g0028 | 3 | 258 | 0.0116 | 46 | c.263 others(65): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TAGLN3_chr3_111993922_112018885 | 112010617 | C | CTCTTGTC others(39): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0122 | 1 | 464 | 0.0022 | 46 | c.356 others(63): Show |
TAGLN3 | ENSG00000144834.14 | transcript | ENST00000478951.6 | protein_coding | 3/4 | chr3 | TogoVar | ||||||
TANC2_chr17_62961235_63432703 | 63055988 | A | AATATATA others(39): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0202 | 1 | 266 | 0.0038 | 46 | c.68- others(63): Show |
TANC2 | ENSG00000170921.16 | transcript | ENST00000689528.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TAPBPL_chr12_6447042_6467316 | 6465357 | A | AGTATATA others(39): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0003 | 1 | 460 | 0.0022 | 46 | c.*32 others(57): Show |
TAPBPL | ENSG00000139192.12 | transcript | ENST00000266556.8 | protein_coding | 3042 | chr12 | TogoVar | ||||||
TASL_chrX_30553809_30582766 | 30571246 | G | GAGAAAGA others(39): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02293.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160a0001c0001t0001g0161 | 2 | 318 | 0.0063 | 46 | c.-2+ others(61): Show |
TASL | ENSG00000120280.6 | transcript | ENST00000378962.4 | protein_coding | 2/2 | chrX | TogoVar | ||||||
TASL_chrX_30553809_30582766 | 30571256 | G | GAAAGAGA others(39): Show |
intron_variant | MODIFIER | HG01106.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0128a0001c0001t0003g0207 | 2 | 318 | 0.0063 | 46 | c.-2+ others(61): Show |
TASL | ENSG00000120280.6 | transcript | ENST00000378962.4 | protein_coding | 2/2 | chrX | TogoVar | ||||||
TASL_chrX_30553809_30582766 | 30571256 | G | GAAAGAGA others(39): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02559.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0139a0001c0001t0003g0092a0001c0001t0004g0036 | 3 | 318 | 0.0094 | 46 | c.-2+ others(61): Show |
TASL | ENSG00000120280.6 | transcript | ENST00000378962.4 | protein_coding | 2/2 | chrX | TogoVar | ||||||
TASL_chrX_30553809_30582766 | 30571256 | G | GAAAGAGA others(39): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02976.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052a0001c0001t0001g0055a0001c0001t0001g0147 | 3 | 318 | 0.0094 | 46 | c.-2+ others(61): Show |
TASL | ENSG00000120280.6 | transcript | ENST00000378962.4 | protein_coding | 2/2 | chrX | TogoVar | ||||||
TASL_chrX_30553809_30582766 | 30571256 | G | GAAAGAGA others(39): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0132a0001c0001t0006g0133 | 2 | 318 | 0.0063 | 46 | c.-2+ others(61): Show |
TASL | ENSG00000120280.6 | transcript | ENST00000378962.4 | protein_coding | 2/2 | chrX | TogoVar | ||||||
TAX1BP1_chr7_27735162_27834767 | 27743693 | A | ATTTTTTC others(39): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 362 | 0.0028 | 46 | c.-8+ others(61): Show |
TAX1BP1 | ENSG00000106052.14 | transcript | ENST00000396319.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
TBC1D13_chr9_128782253_128815430 | 128789812 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03041.hp2 |
a0001 | a0001c0003 | a0001c0003t0027a0001c0003t0108 | a0001c0003t0027g0275a0001c0003t0108g0274 | 2 | 398 | 0.0050 | 46 | c.98- others(59): Show |
TBC1D13 | ENSG00000107021.16 | transcript | ENST00000372648.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TBC1D14_chr4_6904826_7038114 | 6933263 | C | CCCCTCCC others(39): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0031 | 1 | 304 | 0.0033 | 46 | c.722 others(63): Show |
TBC1D14 | ENSG00000132405.19 | transcript | ENST00000409757.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
TBC1D16_chr17_79927343_80040872 | 79937279 | A | ACCACCCC others(39): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00558.hp2 others(95): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(45): Show | a0001c0001t0001g0020a0001c0001t0001g0042a0001c0001t0001g0046others(95): Show | 98 | 334 | 0.2934 | 46 | c.*35 others(57): Show |
TBC1D16 | ENSG00000167291.16 | transcript | ENST00000310924.7 | protein_coding | 12/12 | 3579 | chr17 | TogoVar | |||||
TBC1D2B_chr15_77989985_78082711 | 77992826 | C | CCCCCCAC others(39): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0023a0001c0002t0013g0039 | 2 | 280 | 0.0071 | 46 | c.*53 others(57): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 2158 | chr15 | TogoVar | ||||||
TBC1D2B_chr15_77989985_78082711 | 77992851 | C | CCCCCCCC others(39): Show |
downstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0149 | 1 | 280 | 0.0036 | 46 | c.*53 others(57): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 2133 | chr15 | TogoVar | ||||||
TBC1D2B_chr15_77989985_78082711 | 78040882 | G | GAAAGAAA others(39): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02145.hp1 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0178a0001c0001t0018g0179a0001c0001t0018g0183 | 3 | 280 | 0.0107 | 46 | c.683 others(63): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
TBC1D9_chr4_140615782_140761385 | 140712449 | A | AATATATA others(39): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0221 | 1 | 298 | 0.0034 | 46 | c.131 others(65): Show |
TBC1D9 | ENSG00000109436.8 | transcript | ENST00000442267.3 | protein_coding | 1/20 | chr4 | TogoVar | ||||||
TBXAS1_chr7_139824264_140025293 | 139984636 | G | GAAAGAAA others(39): Show |
intron_variant | MODIFIER | HG06807.hp2 NA19240.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043a0001c0001t0001g0050a0001c0001t0001g0087 | 3 | 270 | 0.0111 | 46 | c.113 others(67): Show |
TBXAS1 | ENSG00000059377.19 | transcript | ENST00000448866.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
TBXAS1_chr7_139824264_140025293 | 139984640 | G | GAAAGAAA others(39): Show |
intron_variant | MODIFIER | HG02293.hp1 HG03041.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0223a0001c0001t0001g0245 | 3 | 270 | 0.0111 | 46 | c.113 others(67): Show |
TBXAS1 | ENSG00000059377.19 | transcript | ENST00000448866.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
TCF25_chr16_89868592_89916379 | 89869053 | A | AAAAAAAA others(39): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 300 | 0.0033 | 46 | c.-46 others(57): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 4538 | chr16 | TogoVar | ||||||
TCF25_chr16_89868592_89916379 | 89869053 | A | AAAAAATA others(39): Show |
upstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 300 | 0.0033 | 46 | c.-46 others(57): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 4538 | chr16 | TogoVar | ||||||
TCF25_chr16_89868592_89916379 | 89905470 | A | AAATCTGG others(39): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 300 | 0.0033 | 46 | c.162 others(63): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 14/17 | chr16 | TogoVar | ||||||
TCF7_chr5_134109681_134153210 | 134152129 | T | TCTAACTG others(39): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0047 | 1 | 344 | 0.0029 | 46 | c.*58 others(57): Show |
TCF7 | ENSG00000081059.20 | transcript | ENST00000342854.10 | protein_coding | 3920 | chr5 | TogoVar | ||||||
TCHHL1_chr1_152079141_152094064 | 152082756 | C | CATATATA others(39): Show |
downstream_gene_variant | MODIFIER | NA18989.hp2 NA19081.hp1 NA20300.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001a0002c0002t0001g0002 | 3 | 376 | 0.0080 | 46 | c.*22 others(57): Show |
TCHHL1 | ENSG00000182898.4 | transcript | ENST00000368806.2 | protein_coding | 1384 | chr1 | TogoVar | ||||||
TCN2_chr22_30602174_30632271 | 30623985 | C | CATATATA others(39): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03453.hp1 |
a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0066a0005c0005t0002g0068 | 2 | 466 | 0.0043 | 46 | c.122 others(63): Show |
TCN2 | ENSG00000185339.10 | transcript | ENST00000215838.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TDP1_chr14_89950927_90049764 | 90020572 | T | TTCCCTCC others(39): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02145.hp1 HG06807.hp2 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0236a0001c0002t0006g0237a0001c0002t0006g0243 | 3 | 264 | 0.0114 | 46 | c.164 others(65): Show |
TDP1 | ENSG00000042088.14 | transcript | ENST00000335725.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
TDRKH_chr1_151768494_151795500 | 151769286 | A | ACTGCCCC others(39): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02145.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0014a0001c0001t0001g0025a0001c0001t0001g0026others(13): Show | 22 | 418 | 0.0526 | 46 | c.*51 others(57): Show |
TDRKH | ENSG00000182134.17 | transcript | ENST00000368824.8 | protein_coding | 4207 | chr1 | TogoVar | ||||||
TEKT1_chr17_6792993_6836729 | 6793081 | A | AAGAAAGA others(39): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0041 | 1 | 406 | 0.0025 | 46 | c.*69 others(57): Show |
TEKT1 | ENSG00000167858.13 | transcript | ENST00000338694.7 | protein_coding | 4911 | chr17 | TogoVar | ||||||
TEKT1_chr17_6792993_6836729 | 6793085 | A | AAGAAAGA others(39): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG01099.hp2 NA19240.hp2 |
a0001a0002 | a0001c0007a0002c0003 | a0001c0007t0002a0002c0003t0002 | a0001c0007t0002g0192a0001c0007t0002g0216a0002c0003t0002g0002 | 3 | 406 | 0.0074 | 46 | c.*69 others(57): Show |
TEKT1 | ENSG00000167858.13 | transcript | ENST00000338694.7 | protein_coding | 4907 | chr17 | TogoVar | ||||||
TEKT2_chr1_36079094_36093275 | 36090898 | C | CTTTTTTT others(39): Show |
downstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 422 | 0.0024 | 46 | c.*27 others(57): Show |
TEKT2 | ENSG00000092850.12 | transcript | ENST00000207457.8 | protein_coding | 2624 | chr1 | TogoVar | ||||||
TENM1_chrX_124370903_125209312 | 124974888 | C | CTATATAT others(39): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0007 | a0007c0022 | a0007c0022t0003 | a0007c0022t0003g0066 | 1 | 140 | 0.0071 | 46 | c.-64 others(65): Show |
TENM1 | ENSG00000009694.14 | transcript | ENST00000422452.4 | protein_coding | 3/34 | chrX | TogoVar | ||||||
TENM2_chr5_166974029_168269157 | 168034043 | G | GTGTGTGT others(39): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02451.hp2 HG02615.hp1 others(3): Show |
a0001a0003a0004 | a0001c0018a0001c0021a0001c0029others(2): Show | a0001c0018t0003a0001c0021t0020a0001c0029t0003others(3): Show | a0001c0018t0003g0023a0001c0021t0020g0021a0001c0029t0003g0019others(3): Show | 6 | 54 | 0.1111 | 46 | c.118 others(67): Show |
TENM2 | ENSG00000145934.17 | transcript | ENST00000518659.6 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
TENM2_chr5_166974029_168269157 | 168034043 | G | GTGTGTGT others(39): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0051 | 1 | 54 | 0.0185 | 46 | c.118 others(67): Show |
TENM2 | ENSG00000145934.17 | transcript | ENST00000518659.6 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
TERT_chr5_1248167_1300068 | 1273167 | C | CTGTGACC others(39): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03130.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128a0001c0001t0001g0131a0001c0001t0001g0132 | 3 | 392 | 0.0077 | 46 | c.228 others(63): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273203 | C | CTGTGACC others(39): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 | 1 | 392 | 0.0026 | 46 | c.228 others(63): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273379 | C | CTGTGACC others(39): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01081.hp2 HG02683.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0207a0001c0002t0001g0057a0001c0002t0001g0068 | 3 | 392 | 0.0077 | 46 | c.228 others(65): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar |