| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ZNF516_chr18_76352682_76500242 | 76393453 | AGGTGGTC others(1270): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0053 | a0002c0053t0195 | a0002c0053t0195g0006 | 1 | 346 | 0.0029 | -1277 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393476 | GGGTGGTC others(1270): Show |
G | intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0002 | a0001c0002t0165 | a0001c0002t0165g0048 | 1 | 346 | 0.0029 | -1277 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1235521 | TCTGCCTC others(1269): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0023 | 1 | 106 | 0.0094 | -1276 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| BICD1_chr12_32101847_32388633 | 32233098 | TATCACTT others(1269): Show |
T | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 290 | 0.0035 | -1276 | c.426 others(19): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| DACT2_chr6_168301904_168324777 | 168316488 | CGTGTGTA others(1269): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01934.hp1 HG02071.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0006 | a0001c0001t0001g0011a0001c0001t0001g0046a0001c0001t0001g0310others(1): Show | 9 | 476 | 0.0189 | -1276 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| PFKP_chr10_3062548_3141802 | 3072480 | CAGTGTAA others(1269): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG03704.hp2 NA20805.hp2 |
a0001 | a0001c0002a0001c0011a0001c0016 | a0001c0002t0002a0001c0011t0003a0001c0016t0007 | a0001c0002t0002g0059a0001c0011t0003g0058a0001c0016t0007g0057 | 3 | 402 | 0.0075 | -1276 | c.112 others(17): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PLA2G4C_chr19_48042846_48115817 | 48077271 | TCAGTAGC others(1269): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG01070.hp1 | a0030 | a0030c0068 | a0030c0068t0001 | a0030c0068t0001g0079 | 1 | 322 | 0.0031 | -1276 | c.845 others(15): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 11/17 | chr19 | TogoVar | ||||||
| UBXN7_chr3_196342662_196437427 | 196426720 | TGCCTGTA others(1269): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0217 | 1 | 274 | 0.0037 | -1276 | c.73+ others(15): Show |
UBXN7 | ENSG00000163960.12 | transcript | ENST00000296328.9 | protein_coding | 1/10 | chr3 | TogoVar | ||||||
| AFP_chr4_73431221_73461174 | 73447055 | CGGACACT others(1268): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG00642.hp1 NA18955.hp2 |
a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0078a0005c0008t0002g0086 | 2 | 390 | 0.0051 | -1275 | c.844 others(16): Show |
AFP | ENSG00000081051.8 | transcript | ENST00000395792.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BRSK2_chr11_1384934_1467689 | 1430284 | TCAGCAGT others(1268): Show |
T | intron_variant | MODIFIER | HG02080.hp2 NA18982.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005 | a0002c0002t0002g0320a0002c0002t0005g0274 | 2 | 360 | 0.0056 | -1275 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CGAS_chr6_73418711_73457297 | 73429583 | TTGGGAGG others(1268): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG01346.hp1 |
a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0283a0001c0006t0003g0308 | 2 | 410 | 0.0049 | -1275 | c.111 others(18): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 3/4 | chr6 | TogoVar | ||||||
| DYNC2I2_chr9_128628653_128661847 | 128652451 | AGAAAGAA others(1268): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG02965.hp1 NA18906.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0001 | a0001c0003t0001g0282a0001c0005t0001g0284a0001c0005t0001g0285 | 3 | 368 | 0.0082 | -1275 | c.186 others(17): Show |
DYNC2I2 | ENSG00000119333.12 | transcript | ENST00000372715.7 | protein_coding | 1/8 | chr9 | TogoVar | ||||||
| HELZ2_chr20_63553086_63579239 | 63574969 | GGGAGGCT others(1268): Show |
G | upstream_gene_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0148 | 1 | 390 | 0.0026 | -1275 | c.-28 others(11): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 731 | chr20 | TogoVar | ||||||
| DACT2_chr6_168301904_168324777 | 168316375 | ATGTGTGT others(1267): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0015 | a0002c0015t0004 | a0002c0015t0004g0097 | 1 | 476 | 0.0021 | -1274 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| DACT2_chr6_168301904_168324777 | 168316487 | ACGTGTGT others(1267): Show |
A | intron_variant | MODIFIER | HG02717.hp2 HG03130.hp2 NA19086.hp1 |
a0002a0011 | a0002c0003a0011c0016 | a0002c0003t0009a0011c0016t0001 | a0002c0003t0009g0066a0011c0016t0001g0274 | 3 | 476 | 0.0063 | -1274 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| DGKE_chr17_56829151_56874567 | 56872567 | AAGATGAA others(1267): Show |
A | downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0006 | 1 | 324 | 0.0031 | -1274 | c.*97 others(12): Show |
DGKE | ENSG00000153933.10 | transcript | ENST00000284061.8 | protein_coding | 3001 | chr17 | TogoVar | ||||||
| DTYMK_chr2_241670747_241691815 | 241687703 | ATTTTTAG others(1267): Show |
A | upstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 420 | 0.0024 | -1274 | c.-21 others(10): Show |
DTYMK | ENSG00000168393.13 | transcript | ENST00000305784.7 | protein_coding | 889 | chr2 | TogoVar | ||||||
| FAIM2_chr12_49861896_49908900 | 49878079 | TGTGCATG others(1267): Show |
T | intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0230 | 1 | 436 | 0.0023 | -1274 | c.801 others(17): Show |
FAIM2 | ENSG00000135472.9 | transcript | ENST00000320634.8 | protein_coding | 11/11 | chr12 | TogoVar | ||||||
| NPSR1_chr7_34653218_34854978 | 34801790 | CAGATGAC others(1267): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02486.hp1 HG02717.hp1 others(6): Show |
a0001a0003a0018 | a0001c0002a0003c0005a0018c0026 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(3): Show | a0001c0002t0001g0015a0001c0002t0001g0016a0001c0002t0002g0120others(6): Show | 9 | 260 | 0.0346 | -1274 | c.385 others(17): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | chr7 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1430827 | GTCTGGTC others(1266): Show |
G | intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0222 | 1 | 360 | 0.0028 | -1273 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 254937 | ATCCCTAG others(1266): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0059 | 1 | 133 | 0.0075 | -1273 | c.439 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
| SMTNL2_chr17_4579529_4613319 | 4610407 | TGGGCGCG others(1266): Show |
T | downstream_gene_variant | MODIFIER | HG01952.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0049 | 1 | 442 | 0.0023 | -1273 | c.*29 others(11): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 2089 | chr17 | TogoVar | ||||||
| TAF11L10_chr5_17592232_17602828 | 17601555 | TTTTTTTT others(1266): Show |
T | upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 352 | 0.0028 | -1273 | c.-50 others(11): Show |
TAF11L10 | ENSG00000284356.1 | transcript | ENST00000638842.1 | protein_coding | 3728 | chr5 | TogoVar | ||||||
| ADGRG6_chr6_142297007_142451261 | 142434299 | GAGATCAA others(1265): Show |
G | intron_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0180 | 1 | 260 | 0.0039 | -1272 | c.332 others(19): Show |
ADGRG6 | ENSG00000112414.15 | transcript | ENST00000367609.8 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| TBCE_chr1_235362427_235457443 | 235373750 | GCCATTCT others(1265): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01106.hp2 others(31): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(3): Show | a0001c0001t0002g0179a0001c0001t0004g0006a0001c0001t0004g0007others(31): Show | 34 | 268 | 0.1269 | -1272 | c.-31 others(17): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| TGFBR3_chr1_91675343_91891151 | 91766504 | GATCATTA others(1265): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG00738.hp1 others(70): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0003a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(41): Show | a0001c0001t0001g0036a0001c0001t0001g0063a0001c0001t0001g0082others(70): Show | 73 | 284 | 0.2570 | -1272 | c.247 others(17): Show |
TGFBR3 | ENSG00000069702.11 | transcript | ENST00000212355.9 | protein_coding | 3/16 | chr1 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1431818 | GTCTGGTC others(1264): Show |
G | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0146 | 1 | 360 | 0.0028 | -1271 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1431865 | GTCTGGTC others(1264): Show |
G | intron_variant | MODIFIER | HG01261.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0074 | a0001c0001t0006g0215a0001c0001t0074g0213 | 2 | 360 | 0.0056 | -1271 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | ||||||
| CYP2A7_chr19_40870439_40887231 | 40872260 | TAATCCAT others(1264): Show |
T | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01928.hp2 HG02056.hp2 others(8): Show |
a0003a0019a0021 | a0003c0002a0019c0024a0021c0025 | a0003c0002t0003a0003c0002t0005a0003c0002t0006others(2): Show | a0003c0002t0003g0191a0003c0002t0005g0161a0003c0002t0005g0162others(8): Show | 11 | 398 | 0.0276 | -1271 | c.*21 others(11): Show |
CYP2A7 | ENSG00000198077.11 | transcript | ENST00000301146.9 | protein_coding | 3178 | chr19 | TogoVar | ||||||
| DACT2_chr6_168301904_168324777 | 168316596 | ATGTGTGT others(1264): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG02559.hp2 others(5): Show |
a0002a0005a0025 | a0002c0002a0002c0003a0002c0005others(2): Show | a0002c0002t0007a0002c0003t0003a0002c0003t0010others(3): Show | a0002c0002t0007g0108a0002c0003t0003g0093a0002c0003t0010g0094others(3): Show | 8 | 476 | 0.0168 | -1271 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| HK1_chr10_69273496_69406882 | 69297616 | CGGATGTG others(1264): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01884.hp1 HG02647.hp2 others(4): Show |
a0001 | a0001c0012a0001c0015a0001c0023others(1): Show | a0001c0012t0001a0001c0015t0001a0001c0023t0009others(1): Show | a0001c0012t0001g0148a0001c0012t0001g0231a0001c0012t0001g0236others(4): Show | 7 | 280 | 0.0250 | -1271 | c.75+ others(15): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000643399.2 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| NOC4L_chr12_132139457_132157468 | 132148890 | ACCTCGGT others(1264): Show |
A | intron_variant | MODIFIER | NA18966.hp1 | a0005 | a0005c0039 | a0005c0039t0001 | a0005c0039t0001g0040 | 1 | 294 | 0.0034 | -1271 | c.901 others(14): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| NOC4L_chr12_132139457_132157468 | 132148962 | TACCACAC others(1264): Show |
T | intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 294 | 0.0034 | -1271 | c.901 others(15): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| RIPK1_chr6_3063494_3120187 | 3092913 | CGCACCTA others(1264): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0099 | 1 | 340 | 0.0029 | -1271 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| POLR3K_chr16_41407_58608 | 47697 | CATGGTGA others(1263): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0023 | a0001c0001t0010g0203a0001c0001t0023g0220 | 2 | 432 | 0.0046 | -1270 | c.200 others(16): Show |
POLR3K | ENSG00000161980.6 | transcript | ENST00000293860.6 | protein_coding | 2/2 | chr16 | TogoVar | ||||||
| KANSL1L_chr2_210016421_210176409 | 210105983 | TACACACA others(1262): Show |
T | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 284 | 0.0035 | -1269 | c.123 others(19): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 3/14 | chr2 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137565632 | TCTGTCTG others(1261): Show |
T | intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0269a0001c0001t0002g0270 | 2 | 340 | 0.0059 | -1268 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| DUSP28_chr2_240555357_240570256 | 240565162 | GAATCACA others(1261): Show |
G | splice_region_variant | LOW | HG00544.hp2 HG00609.hp1 HG00621.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0036 | a0001c0001t0009g0001a0001c0001t0036g0001 | 9 | 422 | 0.0213 | -1268 | c.*36 others(11): Show |
DUSP28 | ENSG00000188542.10 | transcript | ENST00000405954.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| RNPEPL1_chr2_240563484_240586372 | 240565162 | GAATCACA others(1261): Show |
G | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG00621.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0042others(4): Show | 10 | 402 | 0.0249 | -1268 | c.-34 others(11): Show |
RNPEPL1 | ENSG00000142327.13 | transcript | ENST00000270357.10 | protein_coding | 3321 | chr2 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1111890 | TGTACTAA others(1261): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02559.hp2 HG02922.hp2 others(2): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0033a0003c0008others(2): Show | a0001c0001t0001a0002c0033t0001a0003c0008t0001others(2): Show | a0001c0001t0001g0102a0002c0033t0001g0119a0003c0008t0001g0100others(2): Show | 5 | 190 | 0.0263 | -1268 | c.325 others(19): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 714971 | GCTGTGAG others(1260): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00558.hp2 others(21): Show |
a0001a0002 | a0001c0003a0002c0007 | a0001c0003t0005a0001c0003t0010a0001c0003t0029others(3): Show | a0001c0003t0005g0121a0001c0003t0005g0122a0001c0003t0005g0123others(21): Show | 24 | 366 | 0.0656 | -1267 | c.-19 others(20): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| RILPL1_chr12_123465054_123538719 | 123537452 | ATGCCTCT others(1260): Show |
A | upstream_gene_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0003 | a0002c0003t0010 | a0002c0003t0010g0185 | 1 | 210 | 0.0048 | -1267 | c.-52 others(11): Show |
RILPL1 | ENSG00000188026.13 | transcript | ENST00000376874.9 | protein_coding | 3734 | chr12 | TogoVar | ||||||
| CLIC2_chrX_155271211_155339614 | 155324720 | TAAAACAA others(1259): Show |
T | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 258 | 0.0039 | -1266 | c.57+ others(15): Show |
CLIC2 | ENSG00000155962.13 | transcript | ENST00000369449.7 | protein_coding | 1/5 | chrX | TogoVar | ||||||
| DDX51_chr12_132131594_132149319 | 132135062 | ACTCCTCC others(1259): Show |
A | downstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 334 | 0.0030 | -1266 | c.*29 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1531 | chr12 | TogoVar | ||||||
| MTA3_chr2_42563632_42761946 | 42625205 | TATTTTTA others(1259): Show |
T | intron_variant | MODIFIER | HG02818.hp1 HG03453.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0237a0001c0001t0007g0238a0001c0001t0007g0239 | 3 | 312 | 0.0096 | -1266 | c.318 others(19): Show |
MTA3 | ENSG00000057935.14 | transcript | ENST00000405094.2 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SBF2_chr11_9773668_10299219 | 10238500 | ACTTCATA others(1259): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp1 HG01071.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001a0001c0003t0002others(2): Show | a0001c0001t0002g0161a0001c0003t0001g0160a0001c0003t0001g0165others(10): Show | 13 | 224 | 0.0580 | -1266 | c.56- others(17): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | ||||||
| SVBP_chr1_42802052_42822397 | 42804588 | CAACCTTC others(1259): Show |
C | downstream_gene_variant | MODIFIER | HG02615.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003a0001c0001t0002g0004 | 2 | 394 | 0.0051 | -1266 | c.*15 others(11): Show |
SVBP | ENSG00000177868.12 | transcript | ENST00000372521.9 | protein_coding | 2463 | chr1 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1699237 | CCAATACA others(1258): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02735.hp1 NA18945.hp2 others(4): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0009 | a0001c0001t0003a0001c0001t0058a0001c0001t0059others(2): Show | a0001c0001t0003g0094a0001c0001t0003g0102a0001c0001t0058g0099others(4): Show | 7 | 106 | 0.0660 | -1265 | c.100 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| SLC12A7_chr5_1045384_1117063 | 1070292 | GGCATCAC others(1258): Show |
G | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0043 | 1 | 118 | 0.0085 | -1265 | c.224 others(19): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
| SLC66A2_chr18_79897420_79956653 | 79920581 | GGAACCGA others(1258): Show |
G | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0031 | 1 | 352 | 0.0028 | -1265 | c.392 others(17): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar |