| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| LURAP1_chr1_46198334_46226256 | 46213358 | A | AAAGTATA others(339): Show |
intron_variant | MODIFIER | HG02135.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061a0001c0001t0001g0075 | 2 | 356 | 0.0056 | 346 | c.199 others(363): Show |
LURAP1 | ENSG00000171357.6 | transcript | ENST00000371980.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| LYZL4_chr3_42392083_42415610 | 42395606 | T | TGAGGGGA others(339): Show |
downstream_gene_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 396 | 0.0025 | 346 | c.*16 others(357): Show |
LYZL4 | ENSG00000157093.9 | transcript | ENST00000287748.8 | protein_coding | 1476 | chr3 | TogoVar | ||||||
| MAML2_chr11_95971598_96348195 | 96289864 | A | ACCAAATG others(339): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01257.hp2 |
a0001a0004a0016 | a0001c0001a0004c0008a0016c0023 | a0001c0001t0001a0004c0008t0001a0016c0023t0006 | a0001c0001t0001g0220a0004c0008t0001g0205a0016c0023t0006g0206 | 3 | 230 | 0.0130 | 346 | c.513 others(365): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 1/4 | chr11 | TogoVar | ||||||
| MAP1B_chr5_72102475_72214565 | 72117121 | T | TGAAAAAT others(339): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01934.hp1 HG02056.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0024a0001c0001t0001g0291a0001c0001t0002g0292others(4): Show | 7 | 342 | 0.0205 | 346 | c.286 others(363): Show |
MAP1B | ENSG00000131711.15 | transcript | ENST00000296755.12 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| MAP3K21_chr1_233322724_233390148 | 233383384 | T | TAAAAGCT others(339): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0042 | a0002c0002t0042g0005 | 1 | 372 | 0.0027 | 346 | c.*68 others(355): Show |
MAP3K21 | ENSG00000143674.11 | transcript | ENST00000366624.8 | protein_coding | 10/10 | 688 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
| MARCHF1_chr4_163519718_164389019 | 164124111 | C | CAAAAGAA others(339): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0074 | 1 | 102 | 0.0098 | 346 | c.-32 others(367): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | ||||||
| MCC_chr5_113017106_113493453 | 113333794 | T | TATATATG others(339): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0007 | a0001c0007t0020 | a0001c0007t0020g0103 | 1 | 160 | 0.0063 | 346 | c.627 others(363): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | ||||||
| MCC_chr5_113017106_113493453 | 113333794 | T | TATATATG others(339): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0007 | a0001c0007t0006 | a0001c0007t0006g0102 | 1 | 160 | 0.0063 | 346 | c.627 others(363): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | ||||||
| MCC_chr5_113017106_113493453 | 113333800 | T | TGTATATA others(339): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0018 | a0001c0018t0007 | a0001c0018t0007g0104 | 1 | 160 | 0.0063 | 346 | c.627 others(363): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | ||||||
| MCM5_chr22_35395140_35430431 | 35397411 | A | ATAGAGGT others(339): Show |
upstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0102 | 1 | 404 | 0.0025 | 346 | c.-28 others(357): Show |
MCM5 | ENSG00000100297.16 | transcript | ENST00000216122.9 | protein_coding | 2728 | chr22 | TogoVar | ||||||
| MCM5_chr22_35395140_35430431 | 35397411 | A | ATAGAGGT others(339): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG01069.hp1 HG01071.hp2 others(33): Show |
a0001a0008 | a0001c0001a0008c0016 | a0001c0001t0001a0001c0001t0002a0008c0016t0002 | a0001c0001t0001g0100a0001c0001t0001g0104a0001c0001t0001g0108others(23): Show | 36 | 404 | 0.0891 | 346 | c.-28 others(357): Show |
MCM5 | ENSG00000100297.16 | transcript | ENST00000216122.9 | protein_coding | 2728 | chr22 | TogoVar | ||||||
| MCM5_chr22_35395140_35430431 | 35397411 | A | ATAGAGGT others(339): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02717.hp1 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0036 | 6 | 404 | 0.0149 | 346 | c.-28 others(357): Show |
MCM5 | ENSG00000100297.16 | transcript | ENST00000216122.9 | protein_coding | 2728 | chr22 | TogoVar | ||||||
| MCOLN2_chr1_84920583_85002113 | 84987580 | A | ATATGTAT others(339): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0039 | 1 | 350 | 0.0029 | 346 | c.77+ others(361): Show |
MCOLN2 | ENSG00000153898.13 | transcript | ENST00000370608.8 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
| MCTP2_chr15_94226561_94488952 | 94243318 | T | TATATGCG others(339): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0082 | 1 | 276 | 0.0036 | 346 | c.-66 others(365): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| MECOM_chr3_169078507_169668712 | 169427196 | T | TAAAAATT others(339): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0127 | 1 | 160 | 0.0063 | 346 | c.38- others(363): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
| MEP1A_chr6_46788389_46844778 | 46803414 | G | GTAGAATC others(339): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0005 | a0005c0008 | a0005c0008t0003 | a0005c0008t0003g0086 | 1 | 352 | 0.0028 | 346 | c.262 others(363): Show |
MEP1A | ENSG00000112818.11 | transcript | ENST00000230588.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| MGAM2_chr7_142106718_142227324 | 142152460 | A | AGCCCTTT others(339): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0034 | 1 | 329 | 0.0030 | 346 | c.163 others(365): Show |
MGAM2 | ENSG00000257743.9 | transcript | ENST00000477922.4 | protein_coding | 15/47 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| MIA2_chr14_39228915_39355694 | 39251341 | A | AAAAATTA others(339): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0009 | a0009c0009 | a0009c0009t0002 | a0009c0009t0002g0363 | 1 | 368 | 0.0027 | 346 | c.156 others(365): Show |
MIA2 | ENSG00000150527.18 | transcript | ENST00000640607.2 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| MKRN1_chr7_140448033_140484505 | 140476562 | T | TGAAAGCA others(339): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 434 | 0.0023 | 346 | c.185 others(363): Show |
MKRN1 | ENSG00000133606.11 | transcript | ENST00000255977.7 | protein_coding | 1/7 | chr7 | TogoVar | ||||||
| MME_chr3_155075319_155188704 | 155151919 | T | TTACCAAC others(339): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 336 | 0.0030 | 346 | c.160 others(365): Show |
MME | ENSG00000196549.13 | transcript | ENST00000360490.7 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| MMP26_chr11_4699784_4997429 | 4729984 | A | ACAGCCCT others(339): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 206 | 0.0049 | 346 | c.-21 others(367): Show |
MMP26 | ENSG00000167346.9 | transcript | ENST00000380390.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| MPG_chr16_73225_90846 | 81712 | T | TCTCCGGG others(339): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0114 | 1 | 442 | 0.0023 | 346 | c.301 others(363): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MROH2A_chr2_233773330_233838418 | 233787914 | A | ATATATAC others(339): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0029 | a0029c0054 | a0029c0054t0001 | a0029c0054t0001g0070 | 1 | 378 | 0.0027 | 346 | c.277 others(363): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 3/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MSH3_chr5_80649652_80881815 | 80693360 | G | GATAAATA others(339): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0325 | 1 | 362 | 0.0028 | 346 | c.134 others(367): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| MSH3_chr5_80649652_80881815 | 80693360 | G | GATAAATA others(339): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0326a0001c0001t0006g0327 | 2 | 362 | 0.0055 | 346 | c.134 others(367): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| MSR1_chr8_16102881_16197651 | 16189400 | A | ATATTTTA others(339): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0017 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0016a0001c0001t0001g0026a0001c0001t0001g0027others(12): Show | 15 | 330 | 0.0455 | 346 | c.-5+ others(361): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
| MSR1_chr8_16102881_16197651 | 16189400 | A | ATATTTTA others(339): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0045 | 1 | 330 | 0.0030 | 346 | c.-5+ others(361): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
| MSR1_chr8_16102881_16197651 | 16189400 | A | ATATTTTA others(339): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 330 | 0.0030 | 346 | c.-5+ others(361): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
| MTTP_chr4_99569824_99628997 | 99588815 | A | ACATATAT others(339): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0145 | 1 | 364 | 0.0028 | 346 | c.394 others(361): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MYO18B_chr22_25737188_26036045 | 25792353 | T | TAAGAAGT others(339): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0147 | 1 | 228 | 0.0044 | 346 | c.237 others(365): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 11/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| MYOT_chr5_137862860_137892851 | 137883231 | T | TTAAAAAA others(339): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 352 | 0.0028 | 346 | c.817 others(361): Show |
MYOT | ENSG00000120729.10 | transcript | ENST00000239926.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| MYT1_chr20_64159452_64247253 | 64233262 | T | TCCCCTTT others(339): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 223 | 0.0045 | 346 | c.289 others(363): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| MYT1_chr20_64159452_64247253 | 64233262 | T | TCCCCTTT others(339): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 223 | 0.0045 | 346 | c.289 others(363): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| MYT1_chr20_64159452_64247253 | 64233262 | T | TCCCCTTT others(339): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00438.hp1 others(28): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0010a0005c0012others(1): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0026others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0049a0001c0001t0001g0052others(28): Show | 31 | 223 | 0.1390 | 346 | c.289 others(363): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| MYT1_chr20_64159452_64247253 | 64233262 | T | TCCCCTTT others(339): Show |
intron_variant | MODIFIER | HG00438.hp2 NA18964.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103a0001c0001t0001g0158 | 2 | 223 | 0.0090 | 346 | c.289 others(363): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| MYT1_chr20_64159452_64247253 | 64233262 | T | TCCCCTTT others(339): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 223 | 0.0045 | 346 | c.289 others(363): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| NAALAD2_chr11_90129663_90197894 | 90191300 | T | TAAAAGAA others(339): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0322 | 1 | 364 | 0.0028 | 346 | c.203 others(363): Show |
NAALAD2 | ENSG00000077616.11 | transcript | ENST00000534061.6 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NAV2_chr11_19707837_20126601 | 19941447 | T | TAATAAAT others(339): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0091 | a0002c0091t0004 | a0002c0091t0004g0028 | 1 | 166 | 0.0060 | 346 | c.214 others(365): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NBPF10_chr1_146059711_146149804 | 146109343 | C | CACACATA others(339): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0094 | a0094c0139 | a0094c0139t0002 | a0094c0139t0002g0115 | 1 | 283 | 0.0035 | 346 | c.450 others(363): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 35/89 | chr1 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146114061 | C | CACACACA others(339): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0129 | a0129c0137 | a0129c0137t0002 | a0129c0137t0002g0136 | 1 | 283 | 0.0035 | 346 | c.376 others(363): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 29/89 | chr1 | TogoVar | ||||||
| NDUFV3_chr21_42888309_42918299 | 42894401 | T | TAATATAT others(339): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0050 | 1 | 348 | 0.0029 | 346 | c.48+ others(361): Show |
NDUFV3 | ENSG00000160194.18 | transcript | ENST00000354250.7 | protein_coding | 1/3 | chr21 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805198 | T | TGCAGGCC others(339): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0027 | 1 | 319 | 0.0031 | 346 | c.-40 others(357): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3994 | chr2 | TogoVar | ||||||
| NFATC4_chr14_24363184_24384601 | 24364834 | A | ATATATAT others(339): Show |
upstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 394 | 0.0025 | 346 | c.-35 others(357): Show |
NFATC4 | ENSG00000100968.14 | transcript | ENST00000250373.9 | protein_coding | 3349 | chr14 | TogoVar | ||||||
| NHERF4_chr11_119180475_119195213 | 119191312 | A | ATGGTCCC others(339): Show |
downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 346 | c.*18 others(357): Show |
NHERF4 | ENSG00000172367.16 | transcript | ENST00000355547.10 | protein_coding | 1100 | chr11 | TogoVar | ||||||
| NID2_chr14_51999809_52074059 | 52022188 | T | TAAGAATT others(339): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0035 | a0035c0029 | a0035c0029t0001 | a0035c0029t0001g0139 | 1 | 372 | 0.0027 | 346 | c.267 others(365): Show |
NID2 | ENSG00000087303.19 | transcript | ENST00000216286.10 | protein_coding | 12/21 | chr14 | TogoVar | ||||||
| NLGN1_chr3_173392744_174299372 | 174086282 | T | TACATATA others(339): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0040 | 1 | 44 | 0.0227 | 346 | c.707 others(367): Show |
NLGN1 | ENSG00000169760.18 | transcript | ENST00000695368.1 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| NLRP14_chr11_7015479_7076526 | 7071557 | T | TAAGAATG others(339): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 HG03130.hp1 HG03239.hp1 others(1): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0001 | a0001c0001t0001g0011a0001c0001t0001g0153a0006c0008t0001g0014 | 4 | 346 | 0.0116 | 346 | c.*24 others(355): Show |
NLRP14 | ENSG00000158077.5 | transcript | ENST00000299481.5 | protein_coding | 32 | chr11 | TogoVar | ||||||
| NME4_chr16_392199_405754 | 397707 | T | TGTGGGGG others(339): Show |
intron_variant | MODIFIER | HG02895.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 2 | 356 | 0.0056 | 346 | c.91+ others(359): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| NOC4L_chr12_132139457_132157468 | 132150580 | G | GCTCACAC others(339): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0195 | 1 | 294 | 0.0034 | 346 | c.902 others(361): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| NRF1_chr7_129606720_129762076 | 129642756 | A | ACTTTTTT others(339): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 384 | 0.0026 | 346 | c.-6- others(363): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 1/10 | chr7 | TogoVar |