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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RNF213_chr17_80255852_80403794 | 80355637 | G | GGGAAGAA others(447): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01257.hp1 HG02074.hp1 others(7): Show |
a0001a0004a0020 | a0001c0004a0001c0029a0001c0076others(3): Show | a0001c0004t0004a0001c0004t0023a0001c0004t0071others(6): Show | a0001c0004t0004g0074 a0001c0004t0023g0106 a0001c0004t0071g0066 others(7): Show |
10 | 292 | 0.0343 | 454 | c.108 others(475): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 36/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPA3_chr7_7631518_7723607 | 7678970 | T | TTATATAT others(447): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0294 | 1 | 308 | 0.0033 | 454 | c.-75 others(473): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
RPA3_chr7_7631518_7723607 | 7679027 | T | TATATTTA others(447): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0116 a0001c0001t0015g0297 |
2 | 308 | 0.0065 | 454 | c.-75 others(473): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
RPA3_chr7_7631518_7723607 | 7679038 | T | TATAAATA others(447): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 308 | 0.0033 | 454 | c.-75 others(473): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1166026 | C | CCAAGATC others(447): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0097 | 1 | 203 | 0.0049 | 454 | c.-12 others(473): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27919014 | A | AGGAGGAG others(447): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0005 | a0001c0005t0063 | a0001c0005t0063g0312 | 1 | 314 | 0.0032 | 454 | c.916 others(471): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934476 | C | CATATATA others(447): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 324 | 0.0031 | 454 | c.115 others(471): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401787 | C | CCCCGCTC others(447): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 242 | 0.0041 | 454 | c.*41 others(465): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3928 | chr11 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(447): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01074.hp2 HG01255.hp2 others(1): Show |
a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0001 a0003c0006t0001g0012 a0003c0006t0001g0013 |
4 | 214 | 0.0187 | 454 | c.206 others(473): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75280137 | T | TATATATA others(447): Show |
intron_variant | MODIFIER | HG01261.hp2 HG03098.hp1 HG03225.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0031 a0001c0001t0001g0046 a0001c0001t0001g0058 others(5): Show |
8 | 156 | 0.0513 | 454 | c.176 others(471): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
SLCO3A1_chr15_91848708_92170903 | 92143358 | C | CATATATA others(447): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0003 | a0002c0003t0011 | a0002c0003t0011g0039 | 1 | 190 | 0.0053 | 454 | c.151 others(473): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246071781 | C | CTGTAGTT others(447): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0104 | 1 | 150 | 0.0067 | 454 | c.532 others(475): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246071783 | G | GTAGTTCT others(447): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 150 | 0.0067 | 454 | c.532 others(475): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246071812 | C | CCACTGTG others(447): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0114 | 1 | 150 | 0.0067 | 454 | c.532 others(475): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246072180 | T | TTAGTTCT others(447): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0097 | 1 | 150 | 0.0067 | 454 | c.532 others(475): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246325070 | G | GGGGGGGC others(447): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02486.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0012 a0002c0003t0001g0105 |
2 | 150 | 0.0133 | 454 | c.531 others(471): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246325098 | C | CGCGGGGG others(447): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0107 | 1 | 150 | 0.0067 | 454 | c.531 others(471): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1346222 | C | CCCCTGTT others(447): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0098 | 1 | 190 | 0.0053 | 454 | c.148 others(475): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1346222 | C | CCCCTGTT others(447): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0114 | 1 | 190 | 0.0053 | 454 | c.148 others(475): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827335 | T | TATATAAT others(447): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 302 | 0.0033 | 454 | c.12+ others(469): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123016139 | C | CGGGGCGG others(447): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0035 | a0001c0001t0034g0262 a0001c0001t0035g0261 |
2 | 262 | 0.0076 | 454 | c.187 others(475): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123016144 | T | TGGCTGGC others(447): Show |
intron_variant | MODIFIER | NA18966.hp2 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0091 a0001c0001t0008g0092 |
2 | 262 | 0.0076 | 454 | c.187 others(475): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123016144 | T | TGGCTGGC others(447): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02559.hp1 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(6): Show | a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0002g0163 others(11): Show |
14 | 262 | 0.0534 | 454 | c.187 others(475): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123016144 | T | TGGCTGGC others(447): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0168 | 1 | 262 | 0.0038 | 454 | c.187 others(475): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123016144 | T | TGGCTGGC others(447): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01123.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0093 a0001c0001t0009g0094 |
2 | 262 | 0.0076 | 454 | c.187 others(475): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123016144 | T | TGGCTGGC others(447): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00735.hp1 HG01167.hp1 others(29): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 others(29): Show |
32 | 262 | 0.1221 | 454 | c.187 others(475): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123016144 | T | TGGCTGGC others(447): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02559.hp2 others(2): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0012a0001c0001t0052a0005c0008t0015others(1): Show | a0001c0001t0012g0241 a0001c0001t0012g0244 a0001c0001t0052g0245 others(2): Show |
5 | 262 | 0.0191 | 454 | c.187 others(475): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ST7_chr7_116948501_117235176 | 117031379 | T | TGTATATA others(447): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02451.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0158 |
3 | 188 | 0.0160 | 454 | c.152 others(473): Show |
ST7 | ENSG00000004866.22 | transcript | ENST00000323984.8 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
ST7_chr7_116948501_117235176 | 117031379 | T | TGTATATA others(447): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 188 | 0.0053 | 454 | c.152 others(473): Show |
ST7 | ENSG00000004866.22 | transcript | ENST00000323984.8 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
ST7_chr7_116948501_117235176 | 117031379 | T | TGTATATA others(447): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 188 | 0.0053 | 454 | c.152 others(473): Show |
ST7 | ENSG00000004866.22 | transcript | ENST00000323984.8 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672778 | G | GGAGGGGG others(447): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0042 | 1 | 276 | 0.0036 | 454 | c.-18 others(473): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672778 | G | GGAGGGGG others(447): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0102 | 1 | 276 | 0.0036 | 454 | c.-18 others(473): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377371 | G | GCCCCACC others(447): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0311 | 1 | 370 | 0.0027 | 454 | c.-14 others(465): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1346 | chr19 | TogoVar | |||||||
TM4SF19_chr3_196318547_196343388 | 196334923 | A | AGGGAGGG others(447): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0123 | 1 | 370 | 0.0027 | 454 | c.-2+ others(469): Show |
TM4SF19 | ENSG00000145107.16 | transcript | ENST00000273695.4 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
TMEM178B_chr7_141069064_141485380 | 141336851 | A | ACCATCAC others(447): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0030 | a0001c0002t0030g0067 | 1 | 80 | 0.0125 | 454 | c.497 others(475): Show |
TMEM178B | ENSG00000261115.7 | transcript | ENST00000565468.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2418444 | C | CCTCCCTT others(447): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0014 | a0014c0031 | a0014c0031t0003 | a0014c0031t0003g0110 | 1 | 114 | 0.0088 | 454 | c.215 others(471): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930893 | T | TGGGGTTA others(447): Show |
downstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0001 | 1 | 466 | 0.0022 | 454 | c.*46 others(465): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4476 | chr11 | TogoVar | |||||||
TP73_chr1_3647516_3741201 | 3694168 | C | CCCCTCCT others(447): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01256.hp2 HG01515.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0270 a0001c0001t0004g0341 a0001c0001t0004g0342 |
3 | 358 | 0.0084 | 454 | c.186 others(473): Show |
TP73 | ENSG00000078900.16 | transcript | ENST00000378295.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TRAF6_chr11_36478769_36515272 | 36507363 | C | CATACGTA others(447): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0024 | 2 | 388 | 0.0052 | 454 | c.-23 others(471): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TRAF6_chr11_36478769_36515272 | 36507507 | G | GTATTATA others(447): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 NA19003.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0042 | a0001c0001t0003g0062 a0001c0001t0003g0070 a0001c0001t0003g0313 others(1): Show |
4 | 388 | 0.0103 | 454 | c.-23 others(471): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TRAPPC12_chr2_3374694_3484565 | 3437616 | A | AGGATTAA others(447): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0115 | 1 | 344 | 0.0029 | 454 | c.141 others(473): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRAPPC12_chr2_3374694_3484565 | 3438033 | C | CCCCCATC others(447): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 344 | 0.0029 | 454 | c.141 others(473): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRPC4AP_chr20_34997404_35097807 | 35097570 | T | TGTGTATA others(447): Show |
upstream_gene_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0148 | 1 | 334 | 0.0030 | 454 | c.-47 others(465): Show |
TRPC4AP | ENSG00000100991.12 | transcript | ENST00000252015.3 | protein_coding | 4764 | chr20 | TogoVar | |||||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(447): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 a0001c0001t0001g0189 a0001c0001t0001g0190 |
3 | 334 | 0.0090 | 454 | c.657 others(469): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCACC others(447): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG03041.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 360 | 0.0083 | 454 | c.*24 others(465): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870577 | A | ACACCCCA others(447): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 | 1 | 338 | 0.0030 | 454 | c.*35 others(473): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UBXN2A_chr2_23935463_24009909 | 23961257 | G | GGCTAATT others(447): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0006 | 1 | 250 | 0.0040 | 454 | c.41+ others(469): Show |
UBXN2A | ENSG00000173960.14 | transcript | ENST00000309033.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7678970 | T | TTATATAT others(447): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0213 | 1 | 250 | 0.0040 | 454 | c.82+ others(469): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7679027 | T | TATATTTA others(447): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0022 | a0001c0001t0016g0146 a0001c0001t0022g0121 |
2 | 250 | 0.0080 | 454 | c.82+ others(469): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7679038 | T | TATAAATA others(447): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0080 | a0001c0001t0080g0147 | 1 | 250 | 0.0040 | 454 | c.82+ others(469): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |