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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FOXN3_chr14_89151177_89422233 | 89361333 | CCACCACC others(114): Show |
C | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0197 | 1 | 230 | 0.0044 | -121 | c.544 others(19): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FRRS1L_chr9_109125293_109172249 | 109150507 | CACCCAAC others(114): Show |
C | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0076 | 1 | 430 | 0.0023 | -121 | c.239 others(15): Show |
FRRS1L | ENSG00000260230.5 | transcript | ENST00000561981.5 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241807292 | ACCTTCCC others(114): Show |
A | downstream_gene_variant | MODIFIER | NA18982.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0038 | 1 | 314 | 0.0032 | -121 | c.*31 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3006 | chr2 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241807649 | CTCCCTCC others(114): Show |
C | downstream_gene_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0122 | 1 | 314 | 0.0032 | -121 | c.*34 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3363 | chr2 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241807767 | ACCTTCCC others(114): Show |
A | downstream_gene_variant | MODIFIER | NA19004.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015 | 1 | 314 | 0.0032 | -121 | c.*36 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3481 | chr2 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241807849 | TCCCTCCC others(114): Show |
T | downstream_gene_variant | MODIFIER | HG00558.hp2 HG03130.hp2 NA18906.hp2 |
a0001a0002a0007 | a0001c0001a0002c0016a0007c0008 | a0001c0001t0002a0002c0016t0002a0007c0008t0001 | a0001c0001t0002g0024 a0002c0016t0002g0142 a0007c0008t0001g0068 |
3 | 314 | 0.0096 | -121 | c.*36 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3563 | chr2 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241807891 | CTCCCTCC others(114): Show |
C | downstream_gene_variant | MODIFIER | HG02523.hp1 HG03486.hp2 |
a0001a0010 | a0001c0001a0010c0017 | a0001c0001t0001a0010c0017t0002 | a0001c0001t0001g0164 a0010c0017t0002g0020 |
2 | 314 | 0.0064 | -121 | c.*37 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3605 | chr2 | TogoVar | |||||||
GALNT13_chr2_153866922_154458979 | 154298573 | AATTGTAT others(114): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG01069.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0048 others(29): Show |
32 | 214 | 0.1495 | -121 | c.976 others(17): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154298584 | TAATTTAT others(114): Show |
T | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0114 | 1 | 214 | 0.0047 | -121 | c.976 others(17): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GET4_chr7_871554_901436 | 890255 | CGGGGTCT others(114): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG02717.hp2 HG03453.hp1 |
a0001 | a0001c0003a0001c0012 | a0001c0003t0006a0001c0012t0002 | a0001c0003t0006g0038 a0001c0012t0002g0045 |
3 | 384 | 0.0078 | -121 | c.467 others(15): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GFRA1_chr10_116051925_116278206 | 116165308 | TAATAAGA others(114): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02622.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0041 a0001c0001t0002g0164 a0001c0001t0003g0183 others(10): Show |
13 | 214 | 0.0608 | -121 | c.434 others(19): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
GGT1_chr22_24598193_24633996 | 24605461 | TAATATAA others(114): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0273 | 1 | 426 | 0.0024 | -121 | c.-42 others(19): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | chr22 | TogoVar | |||||||
GGT1_chr22_24598193_24633996 | 24605462 | AATATAAT others(114): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0005 | 2 | 426 | 0.0047 | -121 | c.-42 others(19): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GOLGA8A_chr15_34374068_34442808 | 34437593 | CCGCGCCG others(114): Show |
C | 5_prime_UTR_variant | MODIFIER | HG00673.hp1 | a0002 | a0002c0002 | a0002c0002t0099 | a0002c0002t0099g0156 | 1 | 245 | 0.0041 | -121 | c.-15 others(11): Show |
GOLGA8A | ENSG00000175265.19 | transcript | ENST00000359187.5 | protein_coding | 1/25 | 47903 | chr15 | TogoVar | ||||||
GPC5_chr13_91393621_92872237 | 91459455 | CTGGACAT others(114): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02280.hp2 others(4): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0033 others(4): Show |
7 | 42 | 0.1667 | -121 | c.325 others(19): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
INO80D_chr2_205988721_206091174 | 205988812 | AAAATAAA others(114): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0162 | 1 | 334 | 0.0030 | -121 | c.*15 others(13): Show |
INO80D | ENSG00000114933.16 | transcript | ENST00000403263.6 | protein_coding | 4908 | chr2 | TogoVar | |||||||
INO80D_chr2_205988721_206091174 | 205988817 | AAAATAAA others(114): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(85): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0011a0002c0002others(5): Show | a0001c0006t0001a0001c0011t0043a0002c0002t0001others(18): Show | a0001c0006t0001g0110 a0001c0006t0001g0122 a0001c0006t0001g0188 others(84): Show |
88 | 334 | 0.2635 | -121 | c.*15 others(13): Show |
INO80D | ENSG00000114933.16 | transcript | ENST00000403263.6 | protein_coding | 4903 | chr2 | TogoVar | |||||||
IRF4_chr6_386752_416443 | 396934 | TCTCCTGC others(114): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG01255.hp2 HG01952.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0049 a0001c0001t0001g0093 a0001c0001t0001g0094 others(18): Show |
39 | 460 | 0.0848 | -121 | c.493 others(14): Show |
IRF4 | ENSG00000137265.16 | transcript | ENST00000380956.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KANSL1L_chr2_210016421_210176409 | 210140769 | AATCCGTG others(114): Show |
A | intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 284 | 0.0035 | -121 | c.108 others(21): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 2/14 | chr2 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117731329 | AAGTGAGG others(114): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01192.hp1 HG02280.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0012others(1): Show | a0001c0001t0026a0001c0001t0034a0001c0001t0058others(10): Show | a0001c0001t0026g0002 a0001c0001t0034g0026 a0001c0001t0058g0044 others(10): Show |
13 | 196 | 0.0663 | -121 | c.986 others(19): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33673818 | TCCTGGGT others(114): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00735.hp2 others(68): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0020 others(68): Show |
71 | 110 | 0.6455 | -121 | c.107 others(19): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 2/14 | chr22 | TogoVar | |||||||
LGALS8_chr1_236518982_236557981 | 236540347 | GTTCCTGG others(114): Show |
G | intron_variant | MODIFIER | HG01515.hp1 HG02055.hp2 |
a0003 | a0003c0003 | a0003c0003t0024a0003c0003t0044 | a0003c0003t0024g0122 a0003c0003t0044g0279 |
2 | 450 | 0.0044 | -121 | c.346 others(14): Show |
LGALS8 | ENSG00000116977.19 | transcript | ENST00000366584.9 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124506962 | GGGCGGGT others(114): Show |
G | intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 260 | 0.0039 | -121 | c.624 others(17): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LSM7_chr19_2316521_2333586 | 2332999 | GGGCGGCT others(114): Show |
G | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00733.hp2 HG00738.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0017 others(13): Show |
33 | 436 | 0.0757 | -121 | c.-45 others(11): Show |
LSM7 | ENSG00000130332.15 | transcript | ENST00000252622.15 | protein_coding | 4414 | chr19 | TogoVar | |||||||
LYPD8_chr1_248734415_248760759 | 248746787 | GCACCCAC others(114): Show |
G | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 374 | 0.0027 | -121 | c.337 others(17): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
MALRD1_chr10_19043801_19739478 | 19171954 | TATATATC others(114): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01975.hp1 HG01993.hp2 others(9): Show |
a0001a0003a0006others(8): Show | a0001c0003a0003c0020a0006c0058others(9): Show | a0001c0003t0001a0003c0020t0002a0006c0058t0001others(9): Show | a0001c0003t0001g0056 a0003c0020t0002g0086 a0006c0058t0001g0110 others(9): Show |
12 | 152 | 0.0790 | -121 | c.183 others(19): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 13/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MAP3K15_chrX_19355059_19520508 | 19452230 | GAAGAGAA others(114): Show |
G | intron_variant | MODIFIER | NA18943.hp1 NA18945.hp1 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0106 a0001c0001t0001g0107 |
3 | 163 | 0.0184 | -121 | c.995 others(17): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 6/28 | chrX | TogoVar | |||||||
METTL15_chr11_28103388_28338507 | 28335456 | ATAGAAGA others(114): Show |
A | downstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 1 | 332 | 0.0030 | -121 | c.*46 others(11): Show |
METTL15 | ENSG00000169519.21 | transcript | ENST00000407364.8 | protein_coding | 1950 | chr11 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237543144 | AGGGGGAC others(114): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(49): Show |
a0001a0002a0011others(2): Show | a0001c0001a0001c0010a0001c0015others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0144 others(48): Show |
52 | 286 | 0.1818 | -121 | c.153 others(17): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543667 | GCACGGTA others(114): Show |
G | intron_variant | MODIFIER | HG03490.hp1 | a0020 | a0020c0026 | a0020c0026t0002 | a0020c0026t0002g0043 | 1 | 286 | 0.0035 | -121 | c.153 others(19): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237545026 | GGGGCACA others(114): Show |
G | intron_variant | MODIFIER | HG01255.hp2 NA19043.hp1 |
a0001a0004 | a0001c0001a0004c0014 | a0001c0001t0004a0004c0014t0001 | a0001c0001t0004g0236 a0004c0014t0001g0230 |
2 | 286 | 0.0070 | -121 | c.154 others(19): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MRPS9_chr2_105033069_105104960 | 105054804 | GGTATCGC others(114): Show |
G | intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0095 | 1 | 394 | 0.0025 | -121 | c.315 others(17): Show |
MRPS9 | ENSG00000135972.9 | transcript | ENST00000258455.8 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
MT4_chr16_56560073_56573957 | 56562234 | GTCAAGCT others(114): Show |
G | upstream_gene_variant | MODIFIER | HG02897.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0031 | 1 | 428 | 0.0023 | -121 | c.-28 others(11): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 2838 | chr16 | TogoVar | |||||||
MXI1_chr10_110202605_110292365 | 110290251 | GCTTTACC others(114): Show |
G | downstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 372 | 0.0027 | -121 | c.*52 others(11): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 2887 | chr10 | TogoVar | |||||||
NADSYN1_chr11_71448203_71506816 | 71502648 | TGGATAGT others(114): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00642.hp1 others(34): Show |
a0003 | a0003c0004a0003c0009 | a0003c0004t0001a0003c0004t0002a0003c0009t0001 | a0003c0004t0001g0012 a0003c0004t0001g0013 a0003c0004t0001g0037 others(28): Show |
37 | 354 | 0.1045 | -121 | c.*12 others(11): Show |
NADSYN1 | ENSG00000172890.13 | transcript | ENST00000319023.7 | protein_coding | 833 | chr11 | TogoVar | |||||||
NBPF4_chr1_108217464_108249076 | 108230335 | TGCAAGGT others(114): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG00597.hp1 others(37): Show |
a0002a0004a0005others(7): Show | a0002c0003a0002c0005a0002c0008others(12): Show | a0002c0003t0002a0002c0005t0002a0002c0008t0002others(12): Show | a0002c0003t0002g0007 a0002c0003t0002g0014 a0002c0003t0002g0037 others(28): Show |
40 | 134 | 0.2985 | -121 | c.142 others(19): Show |
NBPF4 | ENSG00000196427.14 | transcript | ENST00000415641.8 | protein_coding | 12/14 | chr1 | TogoVar | |||||||
NBPF6_chr1_108445343_108476920 | 108463887 | TGCCTTTC others(114): Show |
T | intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0018 | a0002c0018t0002 | a0002c0018t0002g0042 | 1 | 68 | 0.0147 | -121 | c.142 others(19): Show |
NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 12/14 | chr1 | TogoVar | |||||||
NEDD4L_chr18_58039226_58406539 | 58171317 | CCGCCTCA others(114): Show |
C | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 118 | 0.0085 | -121 | c.122 others(17): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241807292 | ACCTTCCC others(114): Show |
A | upstream_gene_variant | MODIFIER | NA18982.hp1 | a0012 | a0012c0011 | a0012c0011t0001 | a0012c0011t0001g0001 | 1 | 319 | 0.0031 | -121 | c.-19 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1900 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807649 | CTCCCTCC others(114): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0097 | 1 | 319 | 0.0031 | -121 | c.-16 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1543 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807766 | CACCTTCC others(114): Show |
C | upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0105 | 1 | 319 | 0.0031 | -121 | c.-15 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1426 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807767 | ACCTTCCC others(114): Show |
A | upstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0074 | 1 | 319 | 0.0031 | -121 | c.-15 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1425 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807849 | TCCCTCCC others(114): Show |
T | upstream_gene_variant | MODIFIER | HG00558.hp1 HG03130.hp2 NA18906.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0002c0003t0002 | a0001c0001t0001g0001 a0001c0001t0003g0094 a0001c0001t0003g0196 others(1): Show |
4 | 319 | 0.0125 | -121 | c.-14 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1343 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807891 | CTCCCTCC others(114): Show |
C | upstream_gene_variant | MODIFIER | NA18966.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0164 | 1 | 319 | 0.0031 | -121 | c.-13 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1301 | chr2 | TogoVar | |||||||
NLRP4_chr19_55831540_55886855 | 55851408 | TACGAGGC others(114): Show |
T | intron_variant | MODIFIER | NA18950.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0085 | 1 | 424 | 0.0024 | -121 | c.-65 others(15): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
NLRP8_chr19_55942832_55993629 | 55993486 | CCTCTCCC others(114): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00673.hp2 HG01167.hp1 others(11): Show |
a0001a0002a0003others(3): Show | a0001c0002a0002c0003a0003c0037others(3): Show | a0001c0002t0002a0001c0002t0033a0001c0002t0046others(6): Show | a0001c0002t0002g0104 a0001c0002t0002g0107 a0001c0002t0002g0111 others(11): Show |
14 | 350 | 0.0400 | -121 | c.*55 others(11): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4858 | chr19 | TogoVar | |||||||
NLRP8_chr19_55942832_55993629 | 55993488 | TCTCCCCC others(114): Show |
T | downstream_gene_variant | MODIFIER | HG06807.hp2 | a0006 | a0006c0007 | a0006c0007t0022 | a0006c0007t0022g0100 | 1 | 350 | 0.0029 | -121 | c.*55 others(11): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4860 | chr19 | TogoVar | |||||||
NUP98_chr11_3670019_3802554 | 3792042 | GGTGGCAC others(114): Show |
G | intron_variant | MODIFIER | NA18990.hp2 NA18999.hp1 NA19056.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 others(1): Show |
4 | 342 | 0.0117 | -121 | c.-29 others(17): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 1/32 | chr11 | TogoVar | |||||||
NXN_chr17_794310_984776 | 894135 | CAAACGCC others(114): Show |
C | intron_variant | MODIFIER | HG03834.hp2 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0187 a0001c0001t0002g0119 |
2 | 242 | 0.0083 | -121 | c.361 others(19): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OR1L3_chr9_122670130_122681104 | 122679035 | CTATATTA others(114): Show |
C | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02922.hp2 HG03098.hp2 others(1): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0000 a0003c0003t0001g0000 |
4 | 380 | 0.0105 | -121 | c.*29 others(11): Show |
OR1L3 | ENSG00000171481.5 | transcript | ENST00000304820.5 | protein_coding | 2932 | chr9 | TogoVar |