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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MEIKIN_chr5_131801990_131950663 | 131849356 | GAACCTCT others(74): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00639.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0033a0001c0001t0001g0045a0001c0001t0001g0050others(27): Show | 30 | 346 | 0.0867 | -81 | c.975 others(98): Show |
MEIKIN | ENSG00000239642.6 | transcript | ENST00000442687.6 | protein_coding | 11/12 | chr5 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17876865 | GGGAGGTT others(74): Show |
G | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0063 | a0001c0063t0001 | a0001c0063t0001g0008 | 1 | 274 | 0.0037 | -81 | c.224 others(100): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877295 | TAGGGAGG others(74): Show |
T | intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0062 | a0002c0062t0015 | a0002c0062t0015g0078 | 1 | 274 | 0.0037 | -81 | c.224 others(100): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MITF_chr3_69734464_69973332 | 69832937 | GACTGTAT others(74): Show |
G | intron_variant | MODIFIER | HG02074.hp1 HG02083.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0114a0001c0001t0001g0116a0001c0001t0015g0125 | 3 | 178 | 0.0169 | -81 | c.105 others(100): Show |
MITF | ENSG00000187098.18 | transcript | ENST00000352241.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MLLT10_chr10_21529232_21748630 | 21717656 | CTCCTCCT others(74): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0085a0001c0001t0007g0086 | 2 | 192 | 0.0104 | -81 | c.187 others(100): Show |
MLLT10 | ENSG00000078403.17 | transcript | ENST00000307729.12 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237544876 | GGACAGTG others(74): Show |
G | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 286 | 0.0035 | -81 | c.154 others(100): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLYCD_chr16_83894115_83932031 | 83918715 | AACGCACA others(74): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02132.hp1 NA19000.hp1 |
a0002 | a0002c0003 | a0002c0003t0133a0002c0003t0166 | a0002c0003t0133g0252a0002c0003t0166g0005 | 2 | 432 | 0.0046 | -81 | c.*32 others(92): Show |
MLYCD | ENSG00000103150.7 | transcript | ENST00000262430.6 | protein_coding | 5/5 | 3253 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
MMP26_chr11_4699784_4997429 | 4861197 | TAGATACA others(74): Show |
T | intron_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0166 | 1 | 206 | 0.0049 | -81 | c.-14 others(102): Show |
MMP26 | ENSG00000167346.9 | transcript | ENST00000380390.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MPPED1_chr22_43407014_43512848 | 43495818 | GTGGTGGT others(74): Show |
G | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0007 | a0001c0007t0008 | a0001c0007t0008g0069 | 1 | 250 | 0.0040 | -81 | c.633 others(98): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MPPED1_chr22_43407014_43512848 | 43496677 | AGATGGTG others(74): Show |
A | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0233 | 1 | 250 | 0.0040 | -81 | c.633 others(98): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MPPED1_chr22_43407014_43512848 | 43499921 | TGGTGGTG others(74): Show |
T | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0003 | a0001c0003t0027 | a0001c0003t0027g0212 | 1 | 250 | 0.0040 | -81 | c.748 others(98): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MROH6_chr8_143561192_143577772 | 143575769 | GGGTGGGG others(74): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp2 others(138): Show |
a0000a0001a0002others(12): Show | a0000c0031a0000c0032a0000c0033others(20): Show | a0000c0031t0003a0000c0032t0001a0000c0033t0003others(31): Show | a0000c0031t0003g0118a0000c0032t0001g0097a0000c0033t0003g0091others(52): Show | 141 | 437 | 0.3227 | -81 | c.-31 others(92): Show |
MROH6 | ENSG00000204839.9 | transcript | ENST00000398882.8 | protein_coding | 2998 | chr8 | TogoVar | ||||||
MSRB2_chr10_23090579_23127013 | 23111785 | CAATTTAA others(74): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02717.hp1 HG02809.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0016a0001c0001t0001g0108a0001c0001t0001g0111others(4): Show | 10 | 442 | 0.0226 | -81 | c.296 others(98): Show |
MSRB2 | ENSG00000148450.13 | transcript | ENST00000376510.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MTNR1A_chr4_186528655_186560567 | 186546654 | GCCACCCA others(74): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG02109.hp1 HG02451.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0062a0001c0001t0001g0068a0001c0003t0001g0061others(3): Show | 6 | 396 | 0.0152 | -81 | c.184 others(98): Show |
MTNR1A | ENSG00000168412.7 | transcript | ENST00000307161.5 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
MYO9A_chr15_71817291_72123150 | 71900316 | GTCCCAGC others(74): Show |
G | intron_variant | MODIFIER | HG01361.hp1 HG01934.hp1 HG01952.hp2 others(5): Show |
a0004 | a0004c0005 | a0004c0005t0008a0004c0005t0060 | a0004c0005t0008g0300a0004c0005t0008g0302a0004c0005t0008g0303others(5): Show | 8 | 308 | 0.0260 | -81 | c.315 others(98): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 23/41 | chr15 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2086052 | AGTCGTGA others(74): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG03540.hp1 NA18747.hp1 others(1): Show |
a0001a0019a0021others(1): Show | a0001c0023a0019c0058a0021c0028others(1): Show | a0001c0023t0001a0019c0058t0002a0021c0028t0001others(1): Show | a0001c0023t0001g0391a0019c0058t0002g0185a0021c0028t0001g0164others(1): Show | 4 | 403 | 0.0099 | -81 | c.164 others(98): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2086288 | CGTGATCT others(74): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02559.hp1 HG02572.hp2 others(11): Show |
a0001a0002a0004others(4): Show | a0001c0023a0001c0128a0002c0037others(8): Show | a0001c0023t0001a0001c0128t0001a0002c0037t0001others(8): Show | a0001c0023t0001g0137a0001c0023t0001g0385a0001c0023t0001g0391others(11): Show | 14 | 403 | 0.0347 | -81 | c.164 others(98): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2086297 | CGCGTGGC others(74): Show |
C | intron_variant | MODIFIER | NA18954.hp1 NA19066.hp2 |
a0003a0014 | a0003c0001a0014c0114 | a0003c0001t0001a0014c0114t0001 | a0003c0001t0001g0131a0014c0114t0001g0381 | 2 | 403 | 0.0050 | -81 | c.164 others(98): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2086306 | CCCCACAG others(74): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00741.hp2 others(56): Show |
a0001a0002a0003others(19): Show | a0001c0002a0001c0003a0001c0009others(35): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(39): Show | a0001c0002t0001g0013a0001c0002t0001g0216a0001c0002t0001g0322others(55): Show | 59 | 403 | 0.1464 | -81 | c.164 others(99): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2086315 | CGTGATCT others(74): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00597.hp1 others(99): Show |
a0001a0002a0003others(36): Show | a0001c0002a0001c0003a0001c0020others(62): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(69): Show | a0001c0002t0001g0097a0001c0002t0001g0220a0001c0002t0001g0303others(99): Show | 102 | 403 | 0.2531 | -81 | c.164 others(99): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2086407 | CGTGGCCT others(74): Show |
C | intron_variant | MODIFIER | NA18963.hp1 | a0088 | a0088c0172 | a0088c0172t0001 | a0088c0172t0001g0033 | 1 | 403 | 0.0025 | -81 | c.164 others(100): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2086414 | TCCCACTG others(74): Show |
T | intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0085 | 1 | 403 | 0.0025 | -81 | c.164 others(100): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYT1_chr20_64159452_64247253 | 64220781 | GGGGTGGG others(74): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG00733.hp2 HG01070.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0013a0001c0001t0014others(6): Show | a0001c0001t0003g0072a0001c0001t0003g0116a0001c0001t0003g0164others(28): Show | 31 | 223 | 0.1390 | -81 | c.224 others(98): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
NAPRT_chr8_143569785_143583330 | 143575769 | GGGTGGGG others(74): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(136): Show |
a0001a0002a0006others(4): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0002others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(19): Show | 139 | 403 | 0.3449 | -81 | c.110 others(97): Show |
NAPRT | ENSG00000147813.16 | transcript | ENST00000449291.7 | protein_coding | 8/12 | chr8 | TogoVar | ||||||
NARF_chr17_82453741_82495537 | 82489119 | CCCATTCC others(74): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02040.hp1 HG02109.hp2 others(11): Show |
a0001a0005 | a0001c0002a0005c0006 | a0001c0002t0004a0001c0002t0026a0001c0002t0027others(2): Show | a0001c0002t0004g0021a0001c0002t0004g0022a0001c0002t0004g0135others(8): Show | 14 | 356 | 0.0393 | -81 | c.*10 others(92): Show |
NARF | ENSG00000141562.19 | transcript | ENST00000309794.16 | protein_coding | 11/11 | 1030 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
NDUFA13_chr19_19511225_19533198 | 19522358 | TTTTGTCA others(74): Show |
T | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193a0001c0001t0001g0194 | 2 | 380 | 0.0053 | -81 | c.95- others(96): Show |
NDUFA13 | ENSG00000186010.19 | transcript | ENST00000507754.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NEDD4L_chr18_58039226_58406539 | 58171357 | CCCGCCTC others(74): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0082 | 1 | 118 | 0.0085 | -81 | c.122 others(98): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
NEU4_chr2_241804193_241822413 | 241807534 | CCCCCCTC others(74): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0102 | 1 | 319 | 0.0031 | -81 | c.-17 others(92): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1658 | chr2 | TogoVar | ||||||
NFATC2_chr20_51381963_51547719 | 51422956 | TAGCGCTG others(74): Show |
T | intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0030 | 1 | 316 | 0.0032 | -81 | c.272 others(100): Show |
NFATC2 | ENSG00000101096.20 | transcript | ENST00000371564.8 | protein_coding | 9/10 | chr20 | TogoVar | ||||||
NGB_chr14_77260483_77276206 | 77269721 | TCTCTCTT others(74): Show |
T | intron_variant | MODIFIER | HG01169.hp2 HG02145.hp1 NA18960.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0036a0001c0001t0001g0119a0001c0001t0004g0122 | 4 | 366 | 0.0109 | -81 | c.90- others(94): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
NGB_chr14_77260483_77276206 | 77269723 | TCTCTTCT others(74): Show |
T | intron_variant | MODIFIER | HG01928.hp2 HG02071.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 3 | 366 | 0.0082 | -81 | c.90- others(94): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
NKD2_chr5_1003802_1043943 | 1022996 | TGTGGGCG others(74): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG01168.hp2 HG02132.hp1 others(4): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0012t0001 | a0001c0001t0001g0036a0001c0001t0001g0039a0001c0001t0001g0044others(4): Show | 7 | 319 | 0.0219 | -81 | c.142 others(98): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | chr5 | TogoVar | ||||||
NKD2_chr5_1003802_1043943 | 1023119 | TGTGGGCG others(74): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01358.hp2 HG02135.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0048others(2): Show | 5 | 319 | 0.0157 | -81 | c.142 others(98): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | chr5 | TogoVar | ||||||
NKD2_chr5_1003802_1043943 | 1023406 | TGTGGGCG others(74): Show |
T | intron_variant | MODIFIER | HG01515.hp1 HG02622.hp1 HG02735.hp1 others(7): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0126others(7): Show | 10 | 319 | 0.0314 | -81 | c.142 others(98): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | chr5 | TogoVar | ||||||
NKD2_chr5_1003802_1043943 | 1023447 | TGTGGGCG others(74): Show |
T | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 319 | 0.0031 | -81 | c.142 others(98): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | chr5 | TogoVar | ||||||
NKD2_chr5_1003802_1043943 | 1023488 | TGTGGGCG others(74): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(29): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0015others(24): Show | 32 | 319 | 0.1003 | -81 | c.142 others(98): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | chr5 | TogoVar | ||||||
NKD2_chr5_1003802_1043943 | 1023693 | TGTGGGCG others(74): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG01074.hp2 HG01168.hp2 others(16): Show |
a0001 | a0001c0001a0001c0010a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0022others(16): Show | 19 | 319 | 0.0596 | -81 | c.142 others(98): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | chr5 | TogoVar | ||||||
NKD2_chr5_1003802_1043943 | 1023980 | TGTGGGTG others(74): Show |
T | intron_variant | MODIFIER | HG02040.hp2 HG02109.hp2 HG02572.hp1 others(14): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0002a0002c0003t0002a0003c0004t0001others(1): Show | a0001c0001t0002g0007a0001c0001t0002g0008a0001c0001t0002g0030others(13): Show | 17 | 319 | 0.0533 | -81 | c.142 others(98): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | chr5 | TogoVar | ||||||
NKD2_chr5_1003802_1043943 | 1024103 | TGTGGGCG others(74): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 319 | 0.0031 | -81 | c.142 others(98): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | chr5 | TogoVar | ||||||
NKD2_chr5_1003802_1043943 | 1024267 | TGTGGGCG others(74): Show |
T | intron_variant | MODIFIER | HG02615.hp2 | a0004 | a0004c0007 | a0004c0007t0006 | a0004c0007t0006g0079 | 1 | 319 | 0.0031 | -81 | c.142 others(98): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | chr5 | TogoVar | ||||||
NKD2_chr5_1003802_1043943 | 1024308 | TGTGGGCG others(74): Show |
T | intron_variant | MODIFIER | HG02071.hp1 | a0009 | a0009c0013 | a0009c0013t0017 | a0009c0013t0017g0098 | 1 | 319 | 0.0031 | -81 | c.142 others(98): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | chr5 | TogoVar | ||||||
NKD2_chr5_1003802_1043943 | 1024759 | TGTGGGCG others(74): Show |
T | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0265 | 1 | 319 | 0.0031 | -81 | c.142 others(98): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | chr5 | TogoVar | ||||||
NKD2_chr5_1003802_1043943 | 1025005 | TGTGGGCG others(74): Show |
T | intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 319 | 0.0031 | -81 | c.142 others(98): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | chr5 | TogoVar | ||||||
NLRP4_chr19_55831540_55886855 | 55851472 | AGGCTGCG others(74): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02886.hp1 HG02965.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0004a0001c0001t0008a0001c0001t0011others(3): Show | a0001c0001t0004g0347a0001c0001t0008g0352a0001c0001t0008g0353others(5): Show | 8 | 424 | 0.0189 | -81 | c.-65 others(96): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NOX4_chr11_89319353_89496375 | 89438598 | AATACTAT others(74): Show |
A | intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0180 | 1 | 288 | 0.0035 | -81 | c.475 others(98): Show |
NOX4 | ENSG00000086991.13 | transcript | ENST00000263317.9 | protein_coding | 6/17 | chr11 | TogoVar | ||||||
NOX4_chr11_89319353_89496375 | 89438816 | TATTATAT others(74): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02486.hp2 others(13): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0005a0001c0001t0017others(8): Show | a0001c0001t0002g0224a0001c0001t0002g0254a0001c0001t0002g0255others(13): Show | 16 | 288 | 0.0556 | -81 | c.475 others(98): Show |
NOX4 | ENSG00000086991.13 | transcript | ENST00000263317.9 | protein_coding | 6/17 | chr11 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5882166 | ACTTACCC others(74): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047a0001c0001t0001g0048 | 2 | 208 | 0.0096 | -81 | c.248 others(100): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | TogoVar | ||||||
NRG3_chr10_81870194_82992178 | 82311001 | ATTACTGA others(74): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00639.hp1 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0011a0001c0001t0001g0018a0001c0001t0001g0030others(26): Show | 29 | 66 | 0.4394 | -81 | c.824 others(100): Show |
NRG3 | ENSG00000185737.13 | transcript | ENST00000372141.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
NRG3_chr10_81870194_82992178 | 82311068 | CGGCTCCT others(74): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02647.hp2 HG02809.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0003a0001c0002t0002a0001c0002t0005others(2): Show | a0001c0001t0003g0007a0001c0001t0003g0010a0001c0002t0002g0008others(5): Show | 8 | 66 | 0.1212 | -81 | c.824 others(100): Show |
NRG3 | ENSG00000185737.13 | transcript | ENST00000372141.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
OPCML_chr11_132409981_133537501 | 133140952 | AGAAGAAG others(74): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0036 | 1 | 68 | 0.0147 | -81 | c.62- others(100): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar |