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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LAMB4_chr7_108018553_108135361 | 108025433 | T | TTTCTTTC others(46): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0013 | a0013c0026 | a0013c0026t0002 | a0013c0026t0002g0153a0013c0026t0002g0154 | 2 | 292 | 0.0069 | 53 | c.514 others(72): Show |
LAMB4 | ENSG00000091128.13 | transcript | ENST00000388781.8 | protein_coding | 33/33 | chr7 | TogoVar | ||||||
LARP4_chr12_50395885_50485004 | 50446356 | T | TCTCTCTC others(46): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 318 | 0.0031 | 53 | c.804 others(70): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LARP4_chr12_50395885_50485004 | 50446358 | T | TCTCTCTC others(46): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0227 | 1 | 318 | 0.0031 | 53 | c.804 others(70): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LARP4_chr12_50395885_50485004 | 50446362 | T | TCTCTCTC others(46): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0281 | 1 | 318 | 0.0031 | 53 | c.804 others(70): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LARP4_chr12_50395885_50485004 | 50446364 | T | TCTCTCTC others(46): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 318 | 0.0031 | 53 | c.804 others(70): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LARP4_chr12_50395885_50485004 | 50446366 | T | TCTCTCTC others(46): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 318 | 0.0031 | 53 | c.804 others(70): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LARP4_chr12_50395885_50485004 | 50446374 | T | TCTCTCTC others(46): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0006 | a0006c0008 | a0006c0008t0005 | a0006c0008t0005g0037 | 1 | 318 | 0.0031 | 53 | c.804 others(70): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LCE2C_chr1_152670279_152681569 | 152678434 | A | ATACCTTA others(46): Show |
downstream_gene_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 426 | 0.0024 | 53 | c.*20 others(64): Show |
LCE2C | ENSG00000187180.4 | transcript | ENST00000368783.2 | protein_coding | 1866 | chr1 | TogoVar | ||||||
LCN15_chr9_136754634_136769518 | 136769451 | A | ATGCACTG others(46): Show |
upstream_gene_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 356 | 0.0028 | 53 | c.-49 others(64): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4934 | chr9 | TogoVar | ||||||
LEPR_chr1_65415668_65646559 | 65613766 | A | AAAAAAAA others(46): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02647.hp1 HG02976.hp2 |
a0006a0008 | a0006c0013a0008c0019 | a0006c0013t0017a0006c0013t0022a0008c0019t0017 | a0006c0013t0017g0208a0006c0013t0022g0096a0008c0019t0017g0126 | 3 | 216 | 0.0139 | 53 | c.199 others(72): Show |
LEPR | ENSG00000116678.20 | transcript | ENST00000349533.11 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LEP_chr7_128236278_128262629 | 128258665 | T | TTTTCTTT others(46): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0002 | 1 | 395 | 0.0025 | 53 | c.*39 others(64): Show |
LEP | ENSG00000174697.5 | transcript | ENST00000308868.5 | protein_coding | 1037 | chr7 | TogoVar | ||||||
LGR4_chr11_27360961_27477790 | 27441324 | C | CAGCCTCT others(46): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0012 | a0002c0012t0003 | a0002c0012t0003g0156 | 1 | 244 | 0.0041 | 53 | c.186 others(72): Show |
LGR4 | ENSG00000205213.14 | transcript | ENST00000379214.9 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
LHFPL4_chr3_9493361_9558822 | 9537794 | T | TCTCCCTC others(46): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024 | 1 | 360 | 0.0028 | 53 | c.406 others(72): Show |
LHFPL4 | ENSG00000156959.9 | transcript | ENST00000287585.8 | protein_coding | 2/3 | chr3 | TogoVar | ||||||
LIMA1_chr12_50170788_50288520 | 50263905 | A | ATATATAT others(46): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0003a0001c0001t0005g0004 | 2 | 294 | 0.0068 | 53 | c.-23 others(72): Show |
LIMA1 | ENSG00000050405.14 | transcript | ENST00000341247.9 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
LIN28B_chr6_104952107_105088332 | 105023557 | A | ATATTATA others(46): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 278 | 0.0036 | 53 | c.199 others(70): Show |
LIN28B | ENSG00000187772.8 | transcript | ENST00000345080.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LIN54_chr4_82919603_83015823 | 83001858 | A | AAAAGGAA others(46): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 304 | 0.0033 | 53 | c.-33 others(70): Show |
LIN54 | ENSG00000189308.11 | transcript | ENST00000340417.8 | protein_coding | 1/12 | chr4 | TogoVar | ||||||
LIPG_chr18_49557057_49604185 | 49579001 | G | GGGGAGAG others(46): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0057 | 1 | 384 | 0.0026 | 53 | c.794 others(70): Show |
LIPG | ENSG00000101670.12 | transcript | ENST00000261292.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
LIPG_chr18_49557057_49604185 | 49579020 | G | GGGAGAGG others(46): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0126 | 1 | 384 | 0.0026 | 53 | c.794 others(70): Show |
LIPG | ENSG00000101670.12 | transcript | ENST00000261292.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
LLGL1_chr17_18220635_18249875 | 18246796 | T | TATTCTTA others(46): Show |
downstream_gene_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0070 | 1 | 444 | 0.0023 | 53 | c.*28 others(64): Show |
LLGL1 | ENSG00000131899.13 | transcript | ENST00000316843.9 | protein_coding | 1922 | chr17 | TogoVar | ||||||
LMF2_chr22_50497949_50512702 | 50504140 | A | ACCCCCCC others(46): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01361.hp1 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0018a0001c0005t0001g0127a0001c0005t0001g0168 | 4 | 414 | 0.0097 | 53 | c.171 others(70): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | ||||||
LMF2_chr22_50497949_50512702 | 50504140 | A | ACCCCCCC others(46): Show |
intron_variant | MODIFIER | HG01258.hp1 HG01433.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0132a0001c0005t0001g0135 | 2 | 414 | 0.0048 | 53 | c.171 others(70): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | ||||||
LMF2_chr22_50497949_50512702 | 50504140 | A | ACCCCCCC others(46): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0128 | 1 | 414 | 0.0024 | 53 | c.171 others(70): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | ||||||
LMLN_chr3_197955217_198048720 | 197977649 | T | TAAAAATC others(46): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0030 | 1 | 258 | 0.0039 | 53 | c.525 others(68): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
LMOD3_chr3_69101065_69127595 | 69110853 | A | AAAAAAAA others(46): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0235 | 1 | 428 | 0.0023 | 53 | c.165 others(72): Show |
LMOD3 | ENSG00000163380.16 | transcript | ENST00000420581.7 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
LMOD3_chr3_69101065_69127595 | 69110853 | A | AAAAAAAA others(46): Show |
intron_variant | MODIFIER | NA18940.hp1 NA18940.hp2 NA19030.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0040a0001c0001t0139a0001c0002t0016others(1): Show | a0001c0001t0040g0234a0001c0001t0139g0233a0001c0002t0016g0324others(1): Show | 4 | 428 | 0.0094 | 53 | c.165 others(72): Show |
LMOD3 | ENSG00000163380.16 | transcript | ENST00000420581.7 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
LMOD3_chr3_69101065_69127595 | 69110853 | A | AAAAAAAA others(46): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0002 | a0001c0002t0042 | a0001c0002t0042g0340 | 1 | 428 | 0.0023 | 53 | c.165 others(72): Show |
LMOD3 | ENSG00000163380.16 | transcript | ENST00000420581.7 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
LNX2_chr13_27540913_27625529 | 27583255 | T | TGTGTGTG others(46): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0099 | 1 | 358 | 0.0028 | 53 | c.-10 others(72): Show |
LNX2 | ENSG00000139517.9 | transcript | ENST00000316334.5 | protein_coding | 1/9 | chr13 | TogoVar | ||||||
LOC114841035_chr11_64236095_64249132 | 64237126 | G | GAGAGAGA others(46): Show |
upstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 330 | 0.0030 | 53 | c.-41 others(64): Show |
LOC114841035 | ENSG00000286264.2 | transcript | ENST00000652762.2 | protein_coding | 3968 | chr11 | TogoVar | ||||||
LOC128092252_chr15_50643802_50691717 | 50679538 | A | ATATTATA others(46): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0363 | 1 | 388 | 0.0026 | 53 | c.187 others(70): Show |
LOC128092252 | ENSG00000288645.1 | transcript | ENST00000676296.1 | protein_coding | 1/3 | chr15 | TogoVar | ||||||
LOC128125818_chr4_6059977_6075162 | 6067609 | C | CCCCCCTG others(46): Show |
intron_variant | MODIFIER | HG03486.hp2 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0124a0001c0001t0000g0193 | 2 | 462 | 0.0043 | 53 | c.106 others(70): Show |
LOC128125818 | ENSG00000284684.1 | transcript | ENST00000636216.1 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
LPCAT1_chr5_1456427_1528960 | 1491222 | A | AAGGGAAG others(46): Show |
intron_variant | MODIFIER | NA18953.hp2 NA18955.hp1 NA19068.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0139a0001c0001t0002g0140a0001c0002t0001g0291 | 3 | 386 | 0.0078 | 53 | c.494 others(70): Show |
LPCAT1 | ENSG00000153395.10 | transcript | ENST00000283415.4 | protein_coding | 3/13 | chr5 | TogoVar | ||||||
LPCAT1_chr5_1456427_1528960 | 1491222 | A | AAGGGAAG others(46): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(43): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(13): Show | a0001c0001t0002g0014a0001c0001t0002g0109a0001c0001t0002g0124others(41): Show | 46 | 386 | 0.1192 | 53 | c.494 others(70): Show |
LPCAT1 | ENSG00000153395.10 | transcript | ENST00000283415.4 | protein_coding | 3/13 | chr5 | TogoVar | ||||||
LPIN2_chr18_2911999_3018144 | 3016165 | G | GTCACTCC others(46): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(283): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(122): Show | a0001c0001t0001g0120a0001c0001t0001g0171a0001c0001t0001g0174others(281): Show | 286 | 380 | 0.7526 | 53 | c.-30 others(64): Show |
LPIN2 | ENSG00000101577.11 | transcript | ENST00000677752.1 | protein_coding | 3022 | chr18 | TogoVar | ||||||
LRBA_chr4_150259435_151020284 | 150658758 | T | TCTCCCTC others(46): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 180 | 0.0056 | 53 | c.592 others(74): Show |
LRBA | ENSG00000198589.15 | transcript | ENST00000651943.2 | protein_coding | 37/56 | chr4 | TogoVar | ||||||
LRBA_chr4_150259435_151020284 | 150694462 | C | CAAAAAAA others(46): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 180 | 0.0056 | 53 | c.575 others(74): Show |
LRBA | ENSG00000198589.15 | transcript | ENST00000651943.2 | protein_coding | 36/56 | chr4 | TogoVar | ||||||
LRIT3_chr4_109843107_109877315 | 109850402 | C | CTTTCTTT others(46): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03098.hp2 |
a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0017 | 2 | 332 | 0.0060 | 53 | c.117 others(70): Show |
LRIT3 | ENSG00000183423.12 | transcript | ENST00000594814.6 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
LRP1B_chr2_140226423_142136016 | 141464606 | A | ATATATAT others(46): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0010 | 1 | 28 | 0.0357 | 53 | c.343 others(72): Show |
LRP1B | ENSG00000168702.18 | transcript | ENST00000389484.8 | protein_coding | 3/90 | chr2 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132352122 | G | GGTGCAGC others(46): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0019 | 1 | 290 | 0.0035 | 53 | c.107 others(70): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LRRC27_chr10_132327193_132386508 | 132352590 | G | GGTGCAGC others(46): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03516.hp2 HG03579.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0001t0047a0001c0009t0002 | a0001c0001t0002g0285a0001c0001t0047g0286a0001c0009t0002g0283 | 3 | 290 | 0.0103 | 53 | c.107 others(70): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LRRC7_chr1_69562922_70149364 | 69781833 | G | GAAGAAAG others(46): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0006 | a0002c0006t0008 | a0002c0006t0008g0024 | 1 | 108 | 0.0093 | 53 | c.304 others(72): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 3/26 | chr1 | TogoVar | ||||||
LUC7L_chr16_183990_234449 | 184243 | C | CCACCCCT others(46): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 350 | 0.0029 | 53 | c.*49 others(64): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 4746 | chr16 | TogoVar | ||||||
LUC7L_chr16_183990_234449 | 186220 | G | GGGAGGAA others(46): Show |
downstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 350 | 0.0029 | 53 | c.*29 others(64): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2769 | chr16 | TogoVar | ||||||
LUC7L_chr16_183990_234449 | 186713 | G | GGGGAACA others(46): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 350 | 0.0029 | 53 | c.*24 others(64): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2276 | chr16 | TogoVar | ||||||
LUC7L_chr16_183990_234449 | 186951 | G | GGGAGGAA others(46): Show |
downstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 350 | 0.0029 | 53 | c.*22 others(64): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2038 | chr16 | TogoVar | ||||||
LUC7L_chr16_183990_234449 | 187155 | G | GGGGAACA others(46): Show |
downstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 350 | 0.0029 | 53 | c.*20 others(64): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 1834 | chr16 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24774582 | A | AGAATATA others(46): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0069 | 1 | 116 | 0.0086 | 53 | c.396 others(72): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 5/11 | chr11 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24774628 | A | AGAATATA others(46): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03540.hp1 HG03579.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0012a0001c0003t0035 | a0001c0001t0006g0115a0001c0003t0012g0111a0001c0003t0035g0094 | 3 | 116 | 0.0259 | 53 | c.396 others(72): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 5/11 | chr11 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24774674 | A | AGAATATA others(46): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0031a0001c0001t0005g0029 | 2 | 116 | 0.0172 | 53 | c.396 others(72): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 5/11 | chr11 | TogoVar | ||||||
MACF1_chr1_39199695_39492138 | 39477135 | T | TATACACA others(46): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0004 | a0004c0011 | a0004c0011t0003 | a0004c0011t0003g0169 | 1 | 246 | 0.0041 | 53 | c.219 others(74): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 97/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MACIR_chr5_103253763_103283660 | 103261641 | T | TCTTTCTT others(46): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 360 | 0.0028 | 53 | c.-11 others(72): Show |
MACIR | ENSG00000181751.10 | transcript | ENST00000319933.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |