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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(818): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0194 | 1 | 341 | 0.0029 | 825 | c.-6- others(840): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(819): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0239 | 1 | 201 | 0.0050 | 826 | c.130 others(845): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ACSF3_chr16_89088852_89161233 | 89137345 | G | GGGAGGAC others(819): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 |
a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0085 a0002c0003t0005g0086 |
2 | 343 | 0.0058 | 826 | c.136 others(845): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(819): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0033 a0001c0006t0001g0044 |
2 | 155 | 0.0129 | 826 | c.136 others(843): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 965181 | C | CGGGAAAT others(819): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03209.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0228 a0001c0002t0004g0252 |
2 | 261 | 0.0077 | 826 | c.137 others(843): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79358238 | T | TCTGGGTC others(819): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02809.hp1 HG02970.hp2 |
a0001 | a0001c0011 | a0001c0011t0006 | a0001c0011t0006g0105 a0001c0011t0006g0106 a0001c0011t0006g0107 |
3 | 226 | 0.0133 | 826 | c.290 others(845): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(819): Show |
upstream_gene_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 8 | 0.1250 | 826 | c.-70 others(835): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | |||||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(819): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 HG02717.hp1 HG02922.hp1 |
a0001a0005 | a0001c0002a0005c0006 | a0001c0002t0001a0005c0006t0001 | a0001c0002t0001g0047 a0005c0006t0001g0008 a0005c0006t0001g0029 |
3 | 10 | 0.3000 | 826 | c.-70 others(835): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411304 | T | TCTGCTGG others(819): Show |
upstream_gene_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0020 | 1 | 108 | 0.0093 | 826 | c.-23 others(837): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2158 | chr19 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88888557 | T | TGGGGTGG others(819): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0212 | 1 | 4 | 0.2500 | 826 | c.712 others(843): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(819): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0191 | 1 | 38 | 0.0263 | 826 | c.248 others(843): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(819): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0010 | a0010c0015 | a0010c0015t0035 | a0010c0015t0035g0034 | 1 | 38 | 0.0263 | 826 | c.248 others(843): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(819): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0044 | 1 | 38 | 0.0263 | 826 | c.248 others(843): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(819): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01099.hp2 HG01243.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0061 | a0001c0001t0004g0001 a0001c0001t0004g0160 a0001c0001t0004g0177 others(2): Show |
7 | 44 | 0.1591 | 826 | c.248 others(843): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(819): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0237 | 1 | 38 | 0.0263 | 826 | c.248 others(843): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132914517 | A | ACCCCGGC others(819): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0012 | a0012c0073 | a0012c0073t0002 | a0012c0073t0002g0005 | 1 | 244 | 0.0041 | 826 | c.212 others(845): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 17/57 | chr10 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287093 | A | ACTATGTA others(819): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 353 | 0.0028 | 826 | c.51+ others(841): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
EIF3B_chr7_2349827_2385745 | 2377723 | T | TGGAGGAA others(819): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0144 | 1 | 355 | 0.0028 | 826 | c.215 others(843): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
FBXO47_chr17_38931432_38972403 | 38946669 | T | TATATATA others(819): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03098.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0329 a0001c0001t0001g0332 a0001c0001t0001g0333 |
3 | 219 | 0.0137 | 826 | c.617 others(843): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
FER_chr5_108742897_109201841 | 108930372 | T | TTCCCTCC others(819): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0088 | 1 | 2 | 0.5000 | 826 | c.123 others(847): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322309 | A | ATATATGC others(819): Show |
upstream_gene_variant | MODIFIER | NA18992.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 | 1 | 305 | 0.0033 | 826 | c.-27 others(837): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2660 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322309 | A | ATATATGC others(819): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0224 | 1 | 305 | 0.0033 | 826 | c.-27 others(837): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2660 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322329 | T | TGGAACAT others(819): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 314 | 0.0032 | 826 | c.-27 others(837): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2640 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(819): Show |
upstream_gene_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 62 | 0.0161 | 826 | c.-21 others(837): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(819): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 5 | 0.2000 | 826 | c.-41 others(841): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KIF3B_chr20_32272651_32340011 | 32322672 | T | TTATATAT others(819): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0053 | 1 | 217 | 0.0046 | 826 | c.174 others(845): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126799454 | C | CTGTGTGC others(819): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0056 | 1 | 34 | 0.0294 | 826 | c.55+ others(845): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(819): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0007 | a0007c0093 | a0007c0093t0001 | a0007c0093t0001g0116 | 1 | 31 | 0.0323 | 826 | c.956 others(843): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATC others(819): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0252 | 1 | 207 | 0.0048 | 826 | c.126 others(843): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | |||||||
LHFPL3_chr7_104323603_104913561 | 104824176 | A | ATATATAT others(819): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0012 | 1 | 71 | 0.0141 | 826 | c.683 others(845): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256766 | T | TATAGTCA others(819): Show |
upstream_gene_variant | MODIFIER | HG03942.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0001 | 1 | 348 | 0.0029 | 826 | c.-29 others(837): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2920 | chr1 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256766 | T | TATAGTCA others(819): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG03490.hp1 HG03492.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0001 | 3 | 350 | 0.0086 | 826 | c.-29 others(837): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2920 | chr1 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256766 | T | TATAGTCA others(819): Show |
upstream_gene_variant | MODIFIER | HG01934.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0001 | 1 | 348 | 0.0029 | 826 | c.-29 others(837): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2920 | chr1 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256766 | T | TATAGTCA others(819): Show |
upstream_gene_variant | MODIFIER | HG01258.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0001 | 1 | 348 | 0.0029 | 826 | c.-29 others(837): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2920 | chr1 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(819): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015 | 1 | 125 | 0.0080 | 826 | c.-49 others(837): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237544613 | G | GGGGACAG others(819): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0071 | 1 | 214 | 0.0047 | 826 | c.153 others(845): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(819): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 8 | 0.1250 | 826 | c.250 others(841): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(819): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0004 | a0004c0004 | a0004c0004t0011 | a0004c0004t0011g0029 | 1 | 8 | 0.1250 | 826 | c.250 others(841): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(819): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 8 | 0.1250 | 826 | c.250 others(841): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(819): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0145 | 1 | 8 | 0.1250 | 826 | c.250 others(841): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189588 | A | ATATTTTA others(819): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 242 | 0.0041 | 826 | c.-5+ others(841): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(819): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0162 | 1 | 4 | 0.2500 | 826 | c.279 others(841): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
NXN_chr17_794310_984776 | 810309 | G | GTGGCGTG others(819): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG01257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0013others(2): Show | a0001c0001t0003g0180 a0001c0001t0006g0098 a0001c0001t0006g0099 others(4): Show |
7 | 180 | 0.0389 | 826 | c.821 others(843): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
OGDHL_chr10_49729641_49767323 | 49742423 | C | CACACCAC others(819): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0202 | 1 | 121 | 0.0083 | 826 | c.201 others(843): Show |
OGDHL | ENSG00000197444.10 | transcript | ENST00000374103.9 | protein_coding | 15/22 | chr10 | TogoVar | |||||||
OSGIN1_chr16_83948240_83971332 | 83950351 | A | ACACACGT others(819): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 NA20805.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0004 | a0001c0001t0001g0001 a0001c0004t0004g0006 |
2 | 333 | 0.0060 | 826 | c.-30 others(837): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2888 | chr16 | TogoVar | |||||||
PALM2AKAP2_chr9_109775198_110177512 | 109953834 | C | CAAAAAAA others(819): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0200 | 1 | 161 | 0.0062 | 826 | c.496 others(845): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PHKA1_chrX_72573814_72719306 | 72682077 | G | GGGGGGGT others(819): Show |
intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 230 | 0.0043 | 826 | c.537 others(843): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 5/31 | chrX | TogoVar | |||||||
POLG_chr15_89311320_89339824 | 89325069 | T | TGAGTGAG others(819): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0154 | 1 | 384 | 0.0026 | 826 | c.194 others(843): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
POLG_chr15_89311320_89339824 | 89325131 | A | AGTGAGTG others(819): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 349 | 0.0029 | 826 | c.194 others(843): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(819): Show |
intron_variant | MODIFIER | NA20805.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012 | a0001c0001t0004g0214 a0001c0001t0012g0182 |
2 | 20 | 0.1000 | 826 | c.24+ others(843): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar |