| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| LSP1_chr11_1848084_1897263 | 1872112 | GGGGGTGT others(87): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02886.hp2 HG03130.hp2 others(1): Show |
a0003a0006 | a0003c0004a0006c0014 | a0003c0004t0001a0003c0004t0003a0006c0014t0003 | a0003c0004t0001g0195a0003c0004t0003g0187a0003c0004t0003g0196others(1): Show | 4 | 360 | 0.0111 | -94 | c.54- others(109): Show |
LSP1 | ENSG00000130592.17 | transcript | ENST00000311604.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| LSP1_chr11_1848084_1897263 | 1872502 | GGGCAGGC others(87): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp1 HG01070.hp1 others(5): Show |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0016a0002c0001t0002g0041a0002c0001t0002g0175others(3): Show | 8 | 360 | 0.0222 | -94 | c.54- others(109): Show |
LSP1 | ENSG00000130592.17 | transcript | ENST00000311604.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| LUZP2_chr11_24492053_25087638 | 25030901 | ATATAATA others(87): Show |
A | intron_variant | MODIFIER | HG02080.hp1 HG02165.hp2 HG02523.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0007a0001c0001t0013others(1): Show | a0001c0001t0004g0060a0001c0001t0007g0007a0001c0001t0007g0012others(5): Show | 8 | 116 | 0.0690 | -94 | c.766 others(113): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| LUZP2_chr11_24492053_25087638 | 25030919 | TATATATA others(87): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0079 | 1 | 116 | 0.0086 | -94 | c.766 others(113): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 9/11 | chr11 | TogoVar | ||||||
| LYNX1_chr8_142766202_142782202 | 142777378 | ACCCGCCT others(87): Show |
A | upstream_gene_variant | MODIFIER | HG01361.hp2 HG02109.hp1 HG02135.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0048a0001c0001t0002g0006others(4): Show | 7 | 444 | 0.0158 | -94 | c.-53 others(103): Show |
LYNX1 | ENSG00000180155.20 | transcript | ENST00000652477.1 | protein_coding | 177 | chr8 | TogoVar | ||||||
| MAEA_chr4_1284891_1345137 | 1324644 | GAGTTGAG others(87): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp1 others(145): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0001g0123a0001c0001t0001g0124a0001c0001t0001g0125others(145): Show | 148 | 388 | 0.3814 | -94 | c.579 others(111): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MALRD1_chr10_19043801_19739478 | 19171954 | TATATATC others(87): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(55): Show |
a0001a0002a0003others(45): Show | a0001c0001a0002c0020a0002c0039others(49): Show | a0001c0001t0001a0002c0020t0001a0002c0039t0001others(49): Show | a0001c0001t0001g0054a0001c0001t0001g0057a0001c0001t0001g0129others(55): Show | 58 | 152 | 0.3816 | -94 | c.183 others(113): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 13/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| MAP2K2_chr19_4085321_4129122 | 4120853 | TCTGTGCA others(87): Show |
T | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 330 | 0.0030 | -94 | c.92+ others(109): Show |
MAP2K2 | ENSG00000126934.15 | transcript | ENST00000262948.10 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
| MAP3K13_chr3_185358136_185494094 | 185455657 | GATATATA others(87): Show |
G | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0124 | 1 | 278 | 0.0036 | -94 | c.127 others(113): Show |
MAP3K13 | ENSG00000073803.14 | transcript | ENST00000265026.8 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| MAP7D2_chrX_20001713_20121907 | 20094487 | CATATATA others(87): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG02647.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0147a0002c0002t0001g0192 | 2 | 210 | 0.0095 | -94 | c.130 others(113): Show |
MAP7D2 | ENSG00000184368.16 | transcript | ENST00000379643.10 | protein_coding | 1/16 | chrX | TogoVar | ||||||
| MAPK9_chr5_180228143_180297083 | 180296761 | ACACACAC others(87): Show |
A | upstream_gene_variant | MODIFIER | HG02818.hp2 HG03098.hp1 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0036 | a0001c0001t0001g0255a0001c0001t0002g0115a0001c0001t0002g0116others(1): Show | 4 | 372 | 0.0108 | -94 | c.-50 others(105): Show |
MAPK9 | ENSG00000050748.18 | transcript | ENST00000452135.7 | protein_coding | 4679 | chr5 | TogoVar | ||||||
| MAPK9_chr5_180228143_180297083 | 180296861 | ACACACAC others(87): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0013a0001c0001t0001g0014others(48): Show | 55 | 372 | 0.1479 | -94 | c.-51 others(105): Show |
MAPK9 | ENSG00000050748.18 | transcript | ENST00000452135.7 | protein_coding | 4779 | chr5 | TogoVar | ||||||
| ME3_chr11_86436108_86677616 | 86494626 | ACATCCAG others(87): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG03225.hp1 HG03486.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0172a0001c0001t0001g0177a0001c0001t0001g0178others(5): Show | 8 | 320 | 0.0250 | -94 | c.705 others(111): Show |
ME3 | ENSG00000151376.19 | transcript | ENST00000543262.6 | protein_coding | 6/14 | chr11 | TogoVar | ||||||
| MELTF_chr3_196996740_197034817 | 197000591 | ACCGTGTG others(87): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp2 HG01952.hp2 HG02129.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0025a0001c0002t0009 | a0001c0001t0001g0011a0001c0001t0001g0290a0001c0001t0025g0021others(1): Show | 7 | 420 | 0.0167 | -94 | c.*26 others(105): Show |
MELTF | ENSG00000163975.14 | transcript | ENST00000296350.10 | protein_coding | 1148 | chr3 | TogoVar | ||||||
| MELTF_chr3_196996740_197034817 | 197000641 | ATGTGCCA others(87): Show |
A | downstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0103 | 1 | 420 | 0.0024 | -94 | c.*26 others(105): Show |
MELTF | ENSG00000163975.14 | transcript | ENST00000296350.10 | protein_coding | 1098 | chr3 | TogoVar | ||||||
| METAP1D_chr2_171994953_172087430 | 172042578 | TATGTGTG others(87): Show |
T | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0355 | 1 | 356 | 0.0028 | -94 | c.41- others(111): Show |
METAP1D | ENSG00000172878.14 | transcript | ENST00000315796.5 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
| METTL24_chr6_110238940_110363349 | 110302555 | GTATATAT others(87): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG01106.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0004g0181a0001c0001t0007g0167a0001c0001t0008g0138others(9): Show | 12 | 268 | 0.0448 | -94 | c.558 others(111): Show |
METTL24 | ENSG00000053328.9 | transcript | ENST00000338882.5 | protein_coding | 3/4 | chr6 | TogoVar | ||||||
| MIS18BP1_chr14_45198190_45258202 | 45256048 | GAATATTC others(87): Show |
G | upstream_gene_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0078 | 1 | 246 | 0.0041 | -94 | c.-31 others(105): Show |
MIS18BP1 | ENSG00000129534.14 | transcript | ENST00000310806.9 | protein_coding | 2847 | chr14 | TogoVar | ||||||
| MLPH_chr2_237482251_237560322 | 237544524 | GGGGGGAC others(87): Show |
G | intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0244 | 1 | 286 | 0.0035 | -94 | c.153 others(113): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MRM3_chr17_777353_797509 | 778498 | TCTTAATT others(87): Show |
T | upstream_gene_variant | MODIFIER | NA19054.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 440 | 0.0023 | -94 | c.-38 others(105): Show |
MRM3 | ENSG00000171861.11 | transcript | ENST00000304478.9 | protein_coding | 3854 | chr17 | TogoVar | ||||||
| MROH2A_chr2_233773330_233838418 | 233787724 | ATCATATA others(87): Show |
A | intron_variant | MODIFIER | NA20300.hp2 | a0037 | a0037c0034 | a0037c0034t0001 | a0037c0034t0001g0050 | 1 | 378 | 0.0027 | -94 | c.277 others(111): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 3/41 | chr2 | TogoVar | ||||||
| MTUS2_chr13_28815339_29510947 | 29375515 | CTATATAT others(87): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0012 | a0001c0012t0010 | a0001c0012t0010g0068 | 1 | 92 | 0.0109 | -94 | c.311 others(115): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| MUSK_chr9_110663791_110811558 | 110689357 | TAAATACA others(87): Show |
T | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0175 | 1 | 326 | 0.0031 | -94 | c.358 others(111): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| MUSK_chr9_110663791_110811558 | 110690511 | AATATATA others(87): Show |
A | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0305 | 1 | 326 | 0.0031 | -94 | c.358 others(111): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| MX1_chr21_41421239_41464212 | 41455722 | TTGTTCTT others(87): Show |
T | intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 | 1 | 408 | 0.0025 | -94 | c.175 others(113): Show |
MX1 | ENSG00000157601.15 | transcript | ENST00000398598.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| MYO3B_chr2_170173147_170660167 | 170649096 | GTATATTA others(87): Show |
G | intron_variant | MODIFIER | HG02630.hp2 HG03041.hp1 |
a0018a0021 | a0018c0031a0021c0035 | a0018c0031t0008a0021c0035t0008 | a0018c0031t0008g0157a0021c0035t0008g0085 | 2 | 174 | 0.0115 | -94 | c.373 others(113): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MYOM2_chr8_2040046_2150456 | 2054990 | GACGAAGT others(87): Show |
G | intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0017 | a0002c0017t0001 | a0002c0017t0001g0330 | 1 | 403 | 0.0025 | -94 | c.264 others(111): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MYT1L_chr2_1784113_2336275 | 2307740 | CACTTCAG others(87): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01109.hp2 others(16): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(15): Show | a0001c0001t0002g0090a0001c0001t0004g0010a0001c0001t0004g0011others(16): Show | 19 | 104 | 0.1827 | -94 | c.-52 others(115): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 1/24 | chr2 | TogoVar | ||||||
| MYT1_chr20_64159452_64247253 | 64174004 | GTTGTGTC others(87): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG02895.hp1 HG02897.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0005a0001c0004t0004 | a0001c0001t0001g0048a0001c0001t0001g0051a0001c0001t0001g0066others(4): Show | 7 | 223 | 0.0314 | -94 | c.-99 others(111): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| MYT1_chr20_64159452_64247253 | 64174151 | GTAGTTGT others(87): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG02486.hp1 HG02895.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(1): Show | a0001c0001t0001g0048a0001c0001t0001g0051a0001c0001t0001g0066others(5): Show | 8 | 223 | 0.0359 | -94 | c.-99 others(111): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| MYT1_chr20_64159452_64247253 | 64174166 | CCCCCTCC others(87): Show |
C | intron_variant | MODIFIER | HG02040.hp2 NA18612.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0023a0001c0001t0013g0022 | 2 | 223 | 0.0090 | -94 | c.-99 others(111): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| MYT1_chr20_64159452_64247253 | 64174230 | CCTGTAGC others(87): Show |
C | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0037 | 1 | 223 | 0.0045 | -94 | c.-99 others(111): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| MYT1_chr20_64159452_64247253 | 64174730 | CCTGTAGC others(87): Show |
C | intron_variant | MODIFIER | HG02040.hp2 HG02280.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(1): Show | a0001c0001t0001g0023a0001c0001t0003g0020a0001c0001t0013g0022others(1): Show | 4 | 223 | 0.0179 | -94 | c.-99 others(112): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| MYT1_chr20_64159452_64247253 | 64175651 | GTAGTTGT others(87): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01169.hp1 HG01496.hp1 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0011others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(7): Show | a0001c0001t0001g0052a0001c0001t0001g0069a0001c0001t0001g0087others(11): Show | 14 | 223 | 0.0628 | -94 | c.-99 others(113): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| MYT1_chr20_64159452_64247253 | 64175877 | CCTGTAGC others(87): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG02895.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0002t0005a0001c0005t0003 | a0001c0002t0002g0125a0001c0002t0005g0108a0001c0002t0005g0109others(1): Show | 4 | 223 | 0.0179 | -94 | c.-99 others(113): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| MYT1_chr20_64159452_64247253 | 64175927 | CCTGCAGC others(87): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0112 | 1 | 223 | 0.0045 | -94 | c.-99 others(113): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| NDST3_chr4_118029486_118263634 | 118066727 | ATATATAC others(87): Show |
A | intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 216 | 0.0046 | -94 | c.981 others(113): Show |
NDST3 | ENSG00000164100.9 | transcript | ENST00000296499.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| NDST4_chr4_114822763_115118620 | 115021407 | ACATTCCA others(87): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG03209.hp1 |
a0001a0003 | a0001c0005a0003c0013 | a0001c0005t0001a0003c0013t0001 | a0001c0005t0001g0053a0003c0013t0001g0054 | 2 | 190 | 0.0105 | -94 | c.979 others(113): Show |
NDST4 | ENSG00000138653.10 | transcript | ENST00000264363.7 | protein_coding | 2/13 | chr4 | TogoVar | ||||||
| NGEF_chr2_232873701_233018256 | 232900329 | CACGCTCT others(87): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00597.hp1 others(53): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0013a0001c0002t0009a0001c0004t0004others(9): Show | a0001c0001t0013g0053a0001c0001t0013g0054a0001c0001t0013g0055others(53): Show | 56 | 362 | 0.1547 | -94 | c.829 others(111): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 5/14 | chr2 | TogoVar | ||||||
| NGEF_chr2_232873701_233018256 | 233014566 | ACATGGGT others(87): Show |
A | upstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0025 | 1 | 362 | 0.0028 | -94 | c.-16 others(105): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1311 | chr2 | TogoVar | ||||||
| NLRP8_chr19_55942832_55993629 | 55993525 | CTCCCCTC others(87): Show |
C | downstream_gene_variant | MODIFIER | HG01192.hp2 HG01975.hp2 HG02074.hp2 others(4): Show |
a0000 | a0000c0001a0000c0002a0000c0003others(2): Show | a0000c0001t0001a0000c0002t0001a0000c0002t0004others(3): Show | a0000c0001t0001g0008a0000c0002t0001g0294a0000c0002t0004g0277others(4): Show | 7 | 350 | 0.0200 | -94 | c.*56 others(105): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4897 | chr19 | TogoVar | ||||||
| NMT1_chr17_45056317_45114016 | 45080534 | TCTCGGCT others(87): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0238 | 1 | 386 | 0.0026 | -94 | c.132 others(111): Show |
NMT1 | ENSG00000136448.13 | transcript | ENST00000258960.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| NOP14_chr4_2932936_2968406 | 2960929 | TTTAATAT others(87): Show |
T | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159 | 1 | 422 | 0.0024 | -94 | c.195 others(111): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
| NRCAM_chr7_108142649_108461436 | 108177627 | ATATATAT others(87): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02717.hp1 others(2): Show |
a0001a0002a0007 | a0001c0012a0001c0016a0002c0005others(2): Show | a0001c0012t0002a0001c0016t0006a0002c0005t0003others(2): Show | a0001c0012t0002g0173a0001c0016t0006g0029a0002c0005t0003g0185others(2): Show | 5 | 208 | 0.0240 | -94 | c.297 others(111): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 26/32 | chr7 | TogoVar | ||||||
| NUP205_chr7_135552917_135653753 | 135570701 | ATTATATT others(87): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG02055.hp1 HG02683.hp1 others(10): Show |
a0001 | a0001c0004a0001c0021 | a0001c0004t0002a0001c0021t0001 | a0001c0004t0002g0001a0001c0004t0002g0035a0001c0004t0002g0036others(9): Show | 13 | 352 | 0.0369 | -94 | c.29- others(107): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 1/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| NXN_chr17_794310_984776 | 948881 | CTGCCTCC others(87): Show |
C | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 242 | 0.0041 | -94 | c.360 others(113): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 948952 | CCCCCCTG others(87): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 242 | 0.0041 | -94 | c.360 others(113): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| OTUD7A_chr15_31470398_31875673 | 31510809 | TACATATG others(87): Show |
T | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0062 | a0001c0002t0062g0222 | 1 | 244 | 0.0041 | -94 | c.894 others(111): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
| OTUD7A_chr15_31470398_31875673 | 31510857 | CATATATG others(87): Show |
C | intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 | 1 | 244 | 0.0041 | -94 | c.894 others(111): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
| PACRG_chr6_162722974_163320500 | 163269867 | GAGAAAGA others(87): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0044a0001c0001t0002g0024 | 2 | 130 | 0.0154 | -94 | c.614 others(113): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |