| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DPEP1_chr16_89608642_89643433 | 89634845 | T | TCCTTTCC others(292): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 246 | 0.0041 | 299 | c.105 others(316): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| DTHD1_chr4_36276616_36352511 | 36323570 | T | TGCTAGGT others(292): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0274 | 1 | 271 | 0.0037 | 299 | c.234 others(318): Show |
DTHD1 | ENSG00000197057.10 | transcript | ENST00000639862.2 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| EGFR_chr7_55014017_55216628 | 55166829 | G | GTGGTGAT others(292): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0232 | 1 | 248 | 0.0040 | 299 | c.188 others(318): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| ENG_chr9_127810016_127859658 | 127834835 | T | TAGGTTGG others(292): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 318 | 0.0031 | 299 | c.220 others(316): Show |
ENG | ENSG00000106991.14 | transcript | ENST00000373203.9 | protein_coding | 2/14 | chr9 | TogoVar | |||||||
| ENG_chr9_127810016_127859658 | 127834835 | T | TAGGTTGG others(292): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03239.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 a0001c0001t0001g0317 a0001c0001t0001g0320 others(1): Show |
4 | 321 | 0.0125 | 299 | c.220 others(316): Show |
ENG | ENSG00000106991.14 | transcript | ENST00000373203.9 | protein_coding | 2/14 | chr9 | TogoVar | |||||||
| ENY2_chr8_109329347_109350954 | 109337068 | T | TCATTTAA others(292): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 376 | 0.0027 | 299 | c.83+ others(312): Show |
ENY2 | ENSG00000120533.13 | transcript | ENST00000521688.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137329063 | A | ACTACACG others(292): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0021 | a0021c0027 | a0021c0027t0001 | a0021c0027t0001g0064 | 1 | 61 | 0.0164 | 299 | c.199 others(318): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
| EXD3_chr9_137301896_137428162 | 137329176 | A | ACTACACG others(292): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0006 | 1 | 70 | 0.0143 | 299 | c.199 others(318): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
| EXOC2_chr6_480154_698139 | 519226 | C | CCACCGAG others(292): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0118 | 1 | 234 | 0.0043 | 299 | c.238 others(320): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
| EXOC2_chr6_480154_698139 | 519226 | C | CCACCGAG others(292): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0208 | 1 | 234 | 0.0043 | 299 | c.238 others(320): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
| EXOC2_chr6_480154_698139 | 519226 | C | CCACCGAG others(292): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG01175.hp2 others(25): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0017 a0001c0001t0002g0013 a0001c0001t0003g0202 others(25): Show |
28 | 261 | 0.1073 | 299 | c.238 others(320): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
| EXOC2_chr6_480154_698139 | 519326 | C | CCACCGAG others(292): Show |
intron_variant | MODIFIER | NA18971.hp2 NA18983.hp1 NA19012.hp1 others(1): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0004a0001c0004t0005 | a0001c0002t0004g0250 a0001c0004t0005g0219 a0001c0004t0005g0220 others(1): Show |
4 | 260 | 0.0154 | 299 | c.238 others(320): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
| FGFR4_chr5_177081915_177103144 | 177096905 | T | TTCCTCCT others(292): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0006 | a0006c0023 | a0006c0023t0001 | a0006c0023t0001g0113 | 1 | 220 | 0.0045 | 299 | c.215 others(316): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| FIG4_chr6_109686296_109830426 | 109781773 | C | CAGATTTT others(292): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0085 | 1 | 260 | 0.0038 | 299 | c.189 others(318): Show |
FIG4 | ENSG00000112367.12 | transcript | ENST00000230124.8 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| FOXP1_chr3_70949708_71588728 | 71435561 | A | AAGGAGGG others(292): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0093 | 1 | 79 | 0.0127 | 299 | c.-16 others(320): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
| FRYL_chr4_48492357_48785279 | 48700922 | T | TTTCAAAG others(292): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0211 | 1 | 280 | 0.0036 | 299 | c.-20 others(318): Show |
FRYL | ENSG00000075539.15 | transcript | ENST00000358350.9 | protein_coding | 2/63 | chr4 | TogoVar | |||||||
| GLB1L3_chr11_134271379_134324564 | 134308398 | T | TCACCACC others(292): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01258.hp2 HG02300.hp2 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0007 a0002c0004t0001g0088 a0002c0004t0001g0091 others(1): Show |
5 | 319 | 0.0157 | 299 | c.961 others(316): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| GPR158_chr10_25170001_25607229 | 25213845 | T | TCTCTTTT others(292): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0001 | 1 | 160 | 0.0063 | 299 | c.903 others(316): Show |
GPR158 | ENSG00000151025.11 | transcript | ENST00000376351.4 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| GSE1_chr16_85608322_85681200 | 85653201 | C | CCCCTCCC others(292): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0133 | 1 | 160 | 0.0063 | 299 | c.427 others(316): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 322499 | A | AAAAAAAA others(292): Show |
upstream_gene_variant | MODIFIER | HG01169.hp1 HG03831.hp2 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0003 | a0001c0003t0002g0066 a0001c0003t0003g0059 |
2 | 105 | 0.0190 | 299 | c.-37 others(310): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3704 | chrX | TogoVar | |||||||
| HACL1_chr3_15555699_15606569 | 15597657 | T | TGGATCAT others(292): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 323 | 0.0031 | 299 | c.187 others(316): Show |
HACL1 | ENSG00000131373.15 | transcript | ENST00000321169.10 | protein_coding | 2/16 | chr3 | TogoVar | |||||||
| HECW1_chr7_43107647_43571001 | 43342586 | T | TTCTAGAT others(292): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0059 | 1 | 179 | 0.0056 | 299 | c.461 others(318): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| HS3ST3A1_chr17_13489032_13606929 | 13533514 | T | TGAAGTTA others(292): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01934.hp2 HG02559.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0017a0001c0001t0046a0001c0002t0004others(1): Show | a0001c0001t0017g0307 a0001c0001t0046g0053 a0001c0002t0004g0026 others(1): Show |
4 | 259 | 0.0154 | 299 | c.600 others(318): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
| HS3ST3A1_chr17_13489032_13606929 | 13533514 | T | TGAAGTTA others(292): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01169.hp2 |
a0001a0004 | a0001c0002a0004c0008 | a0001c0002t0001a0004c0008t0001 | a0001c0002t0001g0124 a0004c0008t0001g0175 |
2 | 257 | 0.0078 | 299 | c.600 others(318): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
| IL9R_chrX_155992696_156015817 | 156009241 | G | GTGTGTCT others(292): Show |
intron_variant | MODIFIER | NA19006.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0105 | 1 | 215 | 0.0047 | 299 | c.973 others(314): Show |
IL9R | ENSG00000124334.18 | transcript | ENST00000244174.11 | protein_coding | 8/8 | chrX | TogoVar | |||||||
| IMMP2L_chr7_110657644_111567492 | 111428573 | T | TAAAGAAA others(292): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02922.hp1 HG02965.hp1 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0013 | a0001c0002t0004g0055 a0001c0002t0004g0056 a0001c0002t0013g0057 |
3 | 80 | 0.0375 | 299 | c.239 others(318): Show |
IMMP2L | ENSG00000184903.10 | transcript | ENST00000405709.7 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
| INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGGGGC others(292): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03130.hp1 |
a0001 | a0001c0006 | a0001c0006t0001a0001c0006t0008 | a0001c0006t0001g0188 a0001c0006t0008g0187 |
2 | 14 | 0.1429 | 299 | c.978 others(316): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| INS_chr11_2154779_2166209 | 2161578 | A | AGACCCCT others(292): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 204 | 0.0049 | 299 | c.-42 others(308): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 370 | chr11 | TogoVar | |||||||
| IQSEC3_chr12_61767_183455 | 103629 | G | GGGGGAGG others(292): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0184 | 1 | 253 | 0.0040 | 299 | c.623 others(316): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| JAKMIP2_chr5_147580438_147787728 | 147764938 | G | GAAAGAAA others(292): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0005 | a0001c0005t0017 | a0001c0005t0017g0188 | 1 | 228 | 0.0044 | 299 | c.-14 others(320): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
| KCNK2_chr1_215077737_215242090 | 215209560 | A | ATATATAT others(292): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0119 | 1 | 185 | 0.0054 | 299 | c.963 others(318): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| KIF25_chr6_167992671_168050091 | 168035444 | A | AGGCGGGA others(292): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0275 | 1 | 60 | 0.0167 | 299 | c.317 others(316): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| KIF26B_chr1_245149985_245714432 | 245600127 | T | TTCCCGGG others(292): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01169.hp2 HG01346.hp2 |
a0001 | a0001c0002a0001c0050 | a0001c0002t0003a0001c0050t0018 | a0001c0002t0003g0032 a0001c0002t0003g0064 a0001c0050t0018g0132 |
3 | 78 | 0.0385 | 299 | c.135 others(318): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| KPNA1_chr3_122416902_122519939 | 122439505 | C | CAAAAGAG others(292): Show |
intron_variant | MODIFIER | NA19056.hp1 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0329 a0001c0001t0003g0330 |
2 | 355 | 0.0056 | 299 | c.997 others(316): Show |
KPNA1 | ENSG00000114030.13 | transcript | ENST00000344337.11 | protein_coding | 10/13 | chr3 | TogoVar | |||||||
| LHPP_chr10_124456823_124619141 | 124471589 | T | TATTTTTA others(292): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03130.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 a0001c0001t0001g0198 a0001c0001t0001g0252 |
3 | 108 | 0.0278 | 299 | c.125 others(316): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | chr10 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 859576 | G | GAGTGGTG others(292): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0087 | 1 | 262 | 0.0038 | 299 | c.153 others(318): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LOC400499_chr16_11367015_11532247 | 11494117 | G | GGGGGCGG others(292): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0171 | a0171c0165 | a0171c0165t0001 | a0171c0165t0001g0001 | 1 | 260 | 0.0038 | 299 | c.143 others(316): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 11/66 | chr16 | TogoVar | |||||||
| MAD1L1_chr7_1810795_2237945 | 1929824 | T | TCGCCCCG others(292): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 12 | 0.0833 | 299 | c.180 others(318): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | |||||||
| MAD1L1_chr7_1810795_2237945 | 1930522 | T | TGCCACGT others(292): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0087 | 1 | 10 | 0.1000 | 299 | c.180 others(318): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | |||||||
| MAD1L1_chr7_1810795_2237945 | 1930522 | T | TGCCACGT others(292): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00558.hp1 others(11): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0002t0010a0002c0005t0001 | a0002c0002t0001g0012 a0002c0002t0001g0018 a0002c0002t0001g0019 others(11): Show |
14 | 23 | 0.6087 | 299 | c.180 others(318): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | |||||||
| MAD1L1_chr7_1810795_2237945 | 1930522 | T | TGCCACGT others(292): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0023 | 1 | 10 | 0.1000 | 299 | c.180 others(318): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | |||||||
| MAML2_chr11_95971598_96348195 | 96042529 | T | TAAAATCC others(292): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0126 a0001c0001t0012g0130 |
2 | 226 | 0.0088 | 299 | c.213 others(320): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
| MAN2B2_chr4_6570189_6628362 | 6579111 | T | TCACCACC others(292): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0227 | 1 | 327 | 0.0031 | 299 | c.391 others(314): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| MAN2B2_chr4_6570189_6628362 | 6579243 | C | CCACCACC others(292): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 252 | 0.0040 | 299 | c.391 others(314): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| MARCHF1_chr4_163519718_164389019 | 163894652 | C | CATATATA others(292): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0088 | 1 | 5 | 0.2000 | 299 | c.-38 others(318): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
| MBNL1_chr3_152263929_152470780 | 152311692 | A | AGCTCACA others(292): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 333 | 0.0030 | 299 | c.174 others(318): Show |
MBNL1 | ENSG00000152601.18 | transcript | ENST00000324210.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| MCCC1_chr3_183010218_183104496 | 183013803 | T | TAAACAGA others(292): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0080 | 1 | 341 | 0.0029 | 299 | c.*16 others(310): Show |
MCCC1 | ENSG00000078070.14 | transcript | ENST00000265594.9 | protein_coding | 1414 | chr3 | TogoVar | |||||||
| MID2_chrX_107820866_107936637 | 107910768 | T | TTTTCCTT others(292): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 102 | 0.0098 | 299 | c.107 others(318): Show |
MID2 | ENSG00000080561.14 | transcript | ENST00000262843.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| MMD2_chr7_4900998_4964187 | 4959821 | G | GGGTGGAG others(292): Show |
upstream_gene_variant | MODIFIER | HG03927.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017 | a0001c0001t0002g0034 a0001c0001t0017g0052 |
2 | 276 | 0.0072 | 299 | c.-80 others(308): Show |
MMD2 | ENSG00000136297.15 | transcript | ENST00000401401.8 | protein_coding | 635 | chr7 | TogoVar | |||||||
| MMD2_chr7_4900998_4964187 | 4959821 | G | GGGTGGAG others(292): Show |
upstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087 | 1 | 275 | 0.0036 | 299 | c.-80 others(308): Show |
MMD2 | ENSG00000136297.15 | transcript | ENST00000401401.8 | protein_coding | 635 | chr7 | TogoVar |