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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COG7_chr16_23383493_23458189 | 23455642 | G | GGAGGCAG others(737): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG02300.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 a0001c0001t0002g0073 a0001c0001t0002g0085 |
3 | 272 | 0.0110 | 744 | c.-26 others(755): Show |
COG7 | ENSG00000168434.13 | transcript | ENST00000307149.10 | protein_coding | 2454 | chr16 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45500912 | T | TTGGTGTG others(737): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0032 | a0032c0049 | a0032c0049t0002 | a0032c0049t0002g0252 | 1 | 292 | 0.0034 | 744 | c.268 others(763): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385410 | T | TGTGGATA others(737): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0103 | 1 | 372 | 0.0027 | 744 | c.180 others(763): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385936 | C | CGTGTGGA others(737): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0002 | a0002c0007 | a0002c0007t0005 | a0002c0007t0005g0157 | 1 | 372 | 0.0027 | 744 | c.180 others(763): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110481937 | C | CTCTGTCC others(737): Show |
intron_variant | MODIFIER | HG00609.hp2 HG03688.hp1 HG04204.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0003a0001c0004t0004 | a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0004t0004g0291 |
3 | 372 | 0.0081 | 744 | c.275 others(761): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 664411 | C | CCAGCTAT others(737): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01515.hp1 HG02273.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0072 |
3 | 345 | 0.0087 | 744 | c.150 others(765): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 10/11 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 664411 | C | CCAGCTAT others(737): Show |
intron_variant | MODIFIER | HG03486.hp2 NA19012.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0055 a0001c0002t0001g0271 |
2 | 345 | 0.0058 | 744 | c.150 others(765): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 10/11 | chr11 | TogoVar | |||||||
DGKD_chr2_233349494_233477098 | 233397118 | G | GGCCAGAG others(737): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 336 | 0.0030 | 744 | c.348 others(761): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 657527 | C | CGCTAGAC others(737): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0019 | a0001c0019t0003 | a0001c0019t0003g0011 | 1 | 88 | 0.0114 | 744 | c.85+ others(761): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1297510 | A | ATGAACAG others(737): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 40 | 0.0250 | 744 | c.106 others(763): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1297510 | A | ATGAACAG others(737): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0003 | 1 | 40 | 0.0250 | 744 | c.106 others(763): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1297510 | A | ATGAACAG others(737): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0004 | a0002c0004t0018 | a0002c0004t0018g0010 | 1 | 40 | 0.0250 | 744 | c.106 others(763): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DOCK3_chr3_50669927_51389198 | 51015808 | C | CTATATAT others(737): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0012 | 1 | 212 | 0.0047 | 744 | c.316 others(763): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 5/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DOK7_chr4_3458306_3499482 | 3490246 | T | TTCTCCCT others(737): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0029 | 1 | 404 | 0.0025 | 744 | c.772 others(759): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137329795 | G | GGCTACAC others(737): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0039 | 1 | 82 | 0.0122 | 744 | c.199 others(763): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
FAM171A1_chr10_15206643_15376289 | 15229788 | A | ACTATCAC others(737): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0126 a0001c0001t0002g0058 |
2 | 303 | 0.0066 | 744 | c.755 others(761): Show |
FAM171A1 | ENSG00000148468.17 | transcript | ENST00000378116.9 | protein_coding | 5/7 | chr10 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCCTT others(737): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0039 | a0039c0043 | a0039c0043t0001 | a0039c0043t0001g0038 | 1 | 230 | 0.0044 | 744 | c.126 others(761): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26716814 | C | CACAGCCC others(737): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0182 | 1 | 204 | 0.0049 | 744 | c.240 others(763): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26716845 | C | CACAGCCC others(737): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 204 | 0.0049 | 744 | c.240 others(763): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241807888 | T | TCCCTCCC others(737): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 314 | 0.0032 | 744 | c.*37 others(755): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3602 | chr2 | TogoVar | |||||||
GP6_chr19_55008705_55043264 | 55033052 | T | TAGACGCG others(737): Show |
intron_variant | MODIFIER | NA18993.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 a0001c0001t0001g0205 |
2 | 441 | 0.0045 | 744 | c.35- others(757): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 1/7 | chr19 | TogoVar | |||||||
GPC6_chr13_93221807_94413020 | 94157258 | T | TAAAACTG others(737): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0048 | 1 | 76 | 0.0132 | 744 | c.878 others(765): Show |
GPC6 | ENSG00000183098.12 | transcript | ENST00000377047.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(737): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0009 | a0009c0007 | a0009c0007t0039 | a0009c0007t0039g0143 | 1 | 208 | 0.0048 | 744 | c.-97 others(761): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GRIK3_chr1_36790527_37039515 | 36793822 | T | TTGGGTGG others(737): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0001 | a0002c0001t0029 | a0002c0001t0029g0114 | 1 | 114 | 0.0088 | 744 | c.*80 others(755): Show |
GRIK3 | ENSG00000163873.10 | transcript | ENST00000373091.8 | protein_coding | 1704 | chr1 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113346904 | G | GCCTGACA others(737): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 288 | 0.0035 | 744 | c.466 others(761): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41544953 | T | TCTACCAC others(737): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0028 | a0028c0026 | a0028c0026t0069 | a0028c0026t0069g0025 | 1 | 134 | 0.0075 | 744 | c.520 others(765): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399426 | A | ATCACCAT others(737): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0093 | 1 | 314 | 0.0032 | 744 | c.-25 others(761): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
ICA1_chr7_8108184_8267167 | 8152669 | C | CATTATCT others(737): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0031 | 1 | 274 | 0.0037 | 744 | c.804 others(761): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(737): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03195.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0013g0024 |
3 | 204 | 0.0147 | 744 | c.978 others(761): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 103869 | G | GGGGGTAG others(737): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0001 | a0002c0001t0011 | a0002c0001t0011g0124 | 1 | 282 | 0.0036 | 744 | c.623 others(761): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
JAG2_chr14_105135995_105173776 | 105162474 | C | CAAAGCCC others(737): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03209.hp2 NA18986.hp1 |
a0001 | a0001c0001a0001c0009a0001c0051 | a0001c0001t0001a0001c0009t0001a0001c0051t0001 | a0001c0001t0001g0208 a0001c0009t0001g0206 a0001c0051t0001g0207 |
3 | 364 | 0.0082 | 744 | c.418 others(761): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 2/25 | chr14 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514897 | C | CACCCCCA others(737): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0262 | 1 | 270 | 0.0037 | 744 | c.104 others(763): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(737): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 370 | 0.0027 | 744 | c.-27 others(755): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(737): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 370 | 0.0027 | 744 | c.-27 others(755): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(737): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 NA18979.hp2 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 3 | 370 | 0.0081 | 744 | c.-27 others(755): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(737): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 370 | 0.0027 | 744 | c.-27 others(755): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(737): Show |
upstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 370 | 0.0027 | 744 | c.-27 others(755): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364477 | C | CCACCCTT others(737): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0169 | 1 | 290 | 0.0035 | 744 | c.129 others(761): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MAP3K15_chrX_19355059_19520508 | 19478121 | G | GGAGAGGG others(737): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0078 | 1 | 163 | 0.0061 | 744 | c.525 others(761): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | |||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(737): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0067 | a0001c0067t0037 | a0001c0067t0037g0179 | 1 | 278 | 0.0036 | 744 | c.115 others(761): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(737): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0103 | 1 | 278 | 0.0036 | 744 | c.115 others(761): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(737): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045 | 1 | 140 | 0.0071 | 744 | c.114 others(763): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NACC2_chr9_136001537_136100289 | 136023108 | G | GGAGGGAG others(737): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0040 | a0001c0040t0044 | a0001c0040t0044g0020 | 1 | 348 | 0.0029 | 744 | c.887 others(761): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807888 | T | TCCCTCCC others(737): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043 | 1 | 319 | 0.0031 | 744 | c.-13 others(755): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1304 | chr2 | TogoVar | |||||||
NRDC_chr1_51784210_51883727 | 51852550 | G | GTTTTAAA others(737): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03710.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0222 a0001c0005t0001g0226 |
2 | 244 | 0.0082 | 744 | c.342 others(763): Show |
NRDC | ENSG00000078618.23 | transcript | ENST00000352171.12 | protein_coding | 1/30 | chr1 | TogoVar | |||||||
NRXN2_chr11_64601174_64728197 | 64706162 | A | ATATATAA others(737): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0273 | 1 | 308 | 0.0033 | 744 | c.730 others(761): Show |
NRXN2 | ENSG00000110076.21 | transcript | ENST00000265459.11 | protein_coding | 2/22 | chr11 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(737): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 | 1 | 326 | 0.0031 | 744 | c.433 others(761): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
NTM_chr11_131365615_132341822 | 131680627 | C | CTGTGTGT others(737): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02615.hp2 HG03041.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0002g0020 others(3): Show |
6 | 86 | 0.0698 | 744 | c.83- others(763): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133082580 | A | ATCCTCTC others(737): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02965.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0011a0001c0001t0022 | a0001c0001t0010g0066 a0001c0001t0011g0057 a0001c0001t0022g0014 |
3 | 68 | 0.0441 | 744 | c.62- others(763): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OSGIN1_chr16_83948240_83971332 | 83950351 | A | ACACACGT others(737): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 HG02129.hp2 HG03927.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0002t0004a0002c0005t0004 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0002t0004g0005 others(2): Show |
5 | 350 | 0.0143 | 744 | c.-30 others(755): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2888 | chr16 | TogoVar |