view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC7A10_chr19_33203664_33230850 | 33218682 | T | TTTCTTTC others(165): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 410 | 0.0024 | 172 | c.152 others(189): Show |
SLC7A10 | ENSG00000130876.11 | transcript | ENST00000253188.8 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
SLC7A10_chr19_33203664_33230850 | 33218682 | T | TTTCTTTC others(165): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 410 | 0.0024 | 172 | c.152 others(189): Show |
SLC7A10 | ENSG00000130876.11 | transcript | ENST00000253188.8 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
SLC8A1_chr2_40092270_40457090 | 40200177 | T | TATATATA others(165): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0139 | a0001c0001t0139g0216 | 1 | 236 | 0.0042 | 172 | c.180 others(193): Show |
SLC8A1 | ENSG00000183023.19 | transcript | ENST00000332839.9 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
SLC8A1_chr2_40092270_40457090 | 40200177 | T | TATATATA others(165): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0034 | 1 | 236 | 0.0042 | 172 | c.180 others(193): Show |
SLC8A1 | ENSG00000183023.19 | transcript | ENST00000332839.9 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
SLC8A1_chr2_40092270_40457090 | 40200179 | T | TATATATA others(165): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0028 | 1 | 236 | 0.0042 | 172 | c.180 others(193): Show |
SLC8A1 | ENSG00000183023.19 | transcript | ENST00000332839.9 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
SLC9A2_chr2_102614553_102716355 | 102695791 | A | ATATATAT others(165): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0269 | 1 | 344 | 0.0029 | 172 | c.158 others(189): Show |
SLC9A2 | ENSG00000115616.3 | transcript | ENST00000233969.3 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20472611 | T | TATATATA others(165): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0007 | a0007c0013 | a0007c0013t0046 | a0007c0013t0046g0060 | 1 | 230 | 0.0044 | 172 | c.467 others(189): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SMIM13_chr6_11088834_11143733 | 11117340 | T | TTTTTTTT others(165): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0142 | 1 | 400 | 0.0025 | 172 | c.77- others(189): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMIM36_chr17_55444856_55516452 | 55501214 | A | ATATAGTT others(165): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0244 | 1 | 340 | 0.0029 | 172 | c.*17 others(191): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246072010 | G | GTTAGTTC others(165): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 150 | 0.0067 | 172 | c.532 others(193): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246325018 | A | AGCGGGAA others(165): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0138 | 1 | 150 | 0.0067 | 172 | c.531 others(189): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246325041 | C | CGGGGGGC others(165): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0110 | 1 | 150 | 0.0067 | 172 | c.531 others(189): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246325242 | G | GGGGGGGC others(165): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 150 | 0.0067 | 172 | c.531 others(189): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246402367 | T | TAACAACG others(165): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG02071.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0086a0001c0001t0002g0052a0001c0001t0002g0066others(2): Show | 5 | 150 | 0.0333 | 172 | c.165 others(191): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7449233 | C | CCCTCCCT others(165): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0008 | a0008c0052 | a0008c0052t0004 | a0008c0052t0004g0030 | 1 | 168 | 0.0060 | 172 | c.548 others(191): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24189953 | T | TTATATAT others(165): Show |
intron_variant | MODIFIER | NA18993.hp2 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0019 | a0001c0001t0003g0297a0001c0001t0019g0166 | 2 | 356 | 0.0056 | 172 | c.-11 others(193): 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(165): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0020 | 1 | 418 | 0.0024 | 172 | c.*54 others(183): Show |
SPDYE4 | ENSG00000183318.12 | transcript | ENST00000689094.1 | protein_coding | 3978 | chr17 | TogoVar | |||||||
SPNS3_chr17_4428940_4493204 | 4462554 | C | CACCAGTC others(165): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 362 | 0.0028 | 172 | c.111 others(191): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4462554 | C | CACCAGTC others(165): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00639.hp2 others(5): Show |
a0001a0005 | a0001c0003a0001c0009a0001c0024others(3): Show | a0001c0003t0001a0001c0009t0001a0001c0024t0003others(3): Show | a0001c0003t0001g0134a0001c0003t0001g0241a0001c0003t0001g0310others(5): Show | 8 | 362 | 0.0221 | 172 | c.111 others(191): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4462558 | C | CACCAGTC others(165): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01123.hp2 HG01167.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(1): Show | a0001c0001t0001g0131a0001c0001t0001g0133a0001c0001t0001g0332others(8): Show | 11 | 362 | 0.0304 | 172 | c.111 others(191): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4462558 | C | CACCAGTC others(165): Show |
intron_variant | MODIFIER | HG01081.hp2 NA18943.hp2 NA19007.hp2 others(2): Show |
a0001 | a0001c0003a0001c0009a0001c0024 | a0001c0003t0001a0001c0009t0001a0001c0009t0002others(1): Show | a0001c0003t0001g0154a0001c0009t0001g0005a0001c0009t0001g0058others(2): Show | 5 | 362 | 0.0138 | 172 | c.111 others(191): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4462582 | C | CACCAGTC others(165): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 362 | 0.0028 | 172 | c.111 others(191): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPRING1_chr12_116705171_116743069 | 116733346 | T | TTAATTTT others(165): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01361.hp2 HG02698.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0198a0001c0001t0015g0199a0001c0001t0015g0200others(1): Show | 4 | 362 | 0.0111 | 172 | c.111 others(189): Show |
SPRING1 | ENSG00000111412.6 | transcript | ENST00000261318.5 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64822372 | T | TCACACAC others(165): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0002 | a0002c0006 | a0002c0006t0005 | a0002c0006t0005g0152 | 1 | 268 | 0.0037 | 172 | c.148 others(187): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 2/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64822374 | T | TCTCTCTC others(165): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0057 | 1 | 268 | 0.0037 | 172 | c.148 others(187): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 2/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64822374 | T | TCTCTCTC others(165): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0058 | 1 | 268 | 0.0037 | 172 | c.148 others(187): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 2/35 | chr14 | TogoVar | |||||||
SRP68_chr17_76033785_76077517 | 76062699 | T | TTATATAA others(165): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066a0001c0001t0002g0067 | 2 | 365 | 0.0055 | 172 | c.562 others(189): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 4/15 | chr17 | TogoVar | |||||||
ST6GALNAC5_chr1_76862480_77072546 | 77016172 | C | CTCTATCT others(165): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 202 | 0.0050 | 172 | c.262 others(191): Show |
ST6GALNAC5 | ENSG00000117069.15 | transcript | ENST00000477717.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ST6GALNAC5_chr1_76862480_77072546 | 77016172 | C | CTCTATCT others(165): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03579.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0007 | a0001c0001t0003g0072a0001c0001t0003g0073a0002c0002t0007g0182 | 3 | 202 | 0.0149 | 172 | c.262 others(191): Show |
ST6GALNAC5 | ENSG00000117069.15 | transcript | ENST00000477717.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ST6GALNAC5_chr1_76862480_77072546 | 77016172 | C | CTCTATCT others(165): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 202 | 0.0050 | 172 | c.262 others(191): Show |
ST6GALNAC5 | ENSG00000117069.15 | transcript | ENST00000477717.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ST6GALNAC5_chr1_76862480_77072546 | 77016172 | C | CTCTATCT others(165): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0075 | 1 | 202 | 0.0050 | 172 | c.262 others(191): Show |
ST6GALNAC5 | ENSG00000117069.15 | transcript | ENST00000477717.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ST6GALNAC5_chr1_76862480_77072546 | 77016174 | G | GTATCTCC others(165): Show |
intron_variant | MODIFIER | HG00621.hp1 HG03453.hp2 HG03710.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006a0001c0001t0002g0007a0001c0001t0002g0050others(2): Show | 5 | 202 | 0.0248 | 172 | c.262 others(191): Show |
ST6GALNAC5 | ENSG00000117069.15 | transcript | ENST00000477717.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ST6GALNAC5_chr1_76862480_77072546 | 77016174 | G | GTATCTCC others(165): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0188 | 1 | 202 | 0.0050 | 172 | c.262 others(191): Show |
ST6GALNAC5 | ENSG00000117069.15 | transcript | ENST00000477717.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
STK32C_chr10_132202492_132312950 | 132267790 | C | CCTGTCTG others(165): Show |
intron_variant | MODIFIER | HG03688.hp2 HG03710.hp1 |
a0003 | a0003c0007 | a0003c0007t0006 | a0003c0007t0006g0359a0003c0007t0006g0362 | 2 | 368 | 0.0054 | 172 | c.263 others(191): Show |
STK32C | ENSG00000165752.17 | transcript | ENST00000298630.8 | protein_coding | 1/11 | chr10 | TogoVar | |||||||
STRN_chr2_36832698_36971536 | 36966898 | A | AACACACA others(165): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0141 | a0001c0001t0001g0165a0001c0001t0141g0274 | 2 | 302 | 0.0066 | 172 | c.-43 others(181): Show |
STRN | ENSG00000115808.13 | transcript | ENST00000263918.9 | protein_coding | 363 | chr2 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47666120 | A | ATAGTCGG others(165): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01070.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0044a0001c0001t0001g0079a0001c0001t0001g0090others(20): Show | 23 | 364 | 0.0632 | 172 | c.180 others(189): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 12/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47666120 | A | ATAGTCGG others(165): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG00735.hp1 others(62): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0030a0001c0001t0001g0058a0001c0001t0001g0071others(61): Show | 65 | 364 | 0.1786 | 172 | c.177 others(185): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 12/20 | chr20 | TogoVar | |||||||
SUMF1_chr3_4356146_4472269 | 4456815 | T | TGTGTGTG others(165): Show |
intron_variant | MODIFIER | HG06807.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0043a0001c0001t0007g0364 | 2 | 392 | 0.0051 | 172 | c.271 others(189): Show |
SUMF1 | ENSG00000144455.14 | transcript | ENST00000272902.10 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
SYK_chr9_90796819_90903549 | 90884620 | C | CATGTGTA others(165): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0003 | a0001c0003t0023 | a0001c0003t0023g0278 | 1 | 376 | 0.0027 | 172 | c.158 others(191): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(165): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 | a0006 | a0006c0022 | a0006c0022t0008 | a0006c0022t0008g0213 | 1 | 420 | 0.0024 | 172 | c.-64 others(181): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | |||||||
SYNPR_chr3_63273308_63621924 | 63408214 | A | AAGGAAAG others(165): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 246 | 0.0041 | 172 | c.85- others(189): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 47172032 | A | AGCCTACC others(165): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0028 | 1 | 112 | 0.0089 | 172 | c.142 others(191): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1627981 | C | CAGGGGGT others(165): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0005 | a0005c0010 | a0005c0010t0018 | a0005c0010t0018g0171 | 1 | 352 | 0.0028 | 172 | c.299 others(187): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1628391 | C | CAGGGGTG others(165): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0148 | 1 | 352 | 0.0028 | 172 | c.299 others(187): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TENM2_chr5_166974029_168269157 | 167515620 | C | CATATATA others(165): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0012 | a0001c0012t0023 | a0001c0012t0023g0016 | 1 | 54 | 0.0185 | 172 | c.502 others(193): Show |
TENM2 | ENSG00000145934.17 | transcript | ENST00000518659.6 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TENM2_chr5_166974029_168269157 | 167515620 | C | CATATATA others(165): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0019 | a0001c0019t0003 | a0001c0019t0003g0022 | 1 | 54 | 0.0185 | 172 | c.502 others(193): Show |
TENM2 | ENSG00000145934.17 | transcript | ENST00000518659.6 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273190 | A | ACACATCA others(165): Show |
intron_variant | MODIFIER | HG02602.hp2 NA18964.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0282a0001c0003t0001g0306 | 2 | 392 | 0.0051 | 172 | c.228 others(189): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273309 | C | CACGACCG others(165): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0318 | 1 | 392 | 0.0026 | 172 | c.228 others(191): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273788 | C | CCGCCATC others(165): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0358 | 1 | 392 | 0.0026 | 172 | c.228 others(191): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TEX29_chr13_111315642_111349248 | 111340658 | C | CGTGTTTA others(165): Show |
intron_variant | MODIFIER | HG03486.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 | 2 | 416 | 0.0048 | 172 | c.239 others(187): Show |
TEX29 | ENSG00000153495.11 | transcript | ENST00000283547.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |