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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GOLM2_chr15_44283719_44420758 | 44288506 | GAGAGCGA others(40): Show |
G | upstream_gene_variant | MODIFIER | HG01891.hp1 HG03130.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0147 a0001c0003t0001g0148 |
2 | 143 | 0.0140 | -47 | c.-52 others(56): Show |
GOLM2 | ENSG00000166734.20 | transcript | ENST00000299957.11 | protein_coding | 212 | chr15 | TogoVar | |||||||
GP6_chr19_55008705_55043264 | 55029336 | ATATATAT others(40): Show |
A | intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 408 | 0.0025 | -47 | c.326 others(64): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 3/7 | chr19 | TogoVar | |||||||
GPC6_chr13_93221807_94413020 | 94105909 | AAAAGGGT others(40): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG01975.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0037 others(5): Show |
8 | 75 | 0.1067 | -47 | c.877 others(66): Show |
GPC6 | ENSG00000183098.12 | transcript | ENST00000377047.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240635673 | GTCCATGT others(40): Show |
G | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02559.hp2 HG02622.hp1 others(3): Show |
a0002 | a0002c0006 | a0002c0006t0009a0002c0006t0038 | a0002c0006t0009g0017 a0002c0006t0038g0107 |
6 | 398 | 0.0151 | -47 | c.*47 others(58): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 2515 | chr2 | TogoVar | |||||||
GPSM2_chr1_108871985_108939545 | 108873402 | ATATATAT others(40): Show |
A | upstream_gene_variant | MODIFIER | HG02886.hp2 HG03453.hp2 |
a0002 | a0002c0002a0002c0006 | a0002c0002t0020a0002c0006t0010 | a0002c0002t0020g0006 a0002c0006t0010g0030 |
2 | 256 | 0.0078 | -47 | c.-40 others(58): Show |
GPSM2 | ENSG00000121957.15 | transcript | ENST00000264126.9 | protein_coding | 3582 | chr1 | TogoVar | |||||||
GRAMD4_chr22_46615386_46684785 | 46635752 | GCCCCTGG others(40): Show |
G | intron_variant | MODIFIER | NA18952.hp2 NA19067.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 a0001c0001t0001g0116 |
2 | 206 | 0.0097 | -47 | c.163 others(64): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GRID2_chr4_92298966_93779566 | 92978235 | CAATTATT others(40): Show |
C | intron_variant | MODIFIER | HG02922.hp2 NA18942.hp2 NA18950.hp1 |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0006a0001c0002t0001a0002c0003t0001 | a0001c0001t0006g0020 a0001c0002t0001g0015 a0002c0003t0001g0034 |
3 | 33 | 0.0909 | -47 | c.245 others(68): Show |
GRID2 | ENSG00000152208.13 | transcript | ENST00000282020.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GRIK3_chr1_36790527_37039515 | 36959926 | GTGCCCCA others(40): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG00673.hp1 others(52): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(18): Show | a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0026 others(52): Show |
55 | 112 | 0.4911 | -47 | c.116 others(66): Show |
GRIK3 | ENSG00000163873.10 | transcript | ENST00000373091.8 | protein_coding | 1/15 | chr1 | TogoVar | |||||||
GRK4_chr4_2958571_3045760 | 2960969 | ATATTATA others(40): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp2 HG02647.hp1 |
a0005 | a0005c0005 | a0005c0005t0005 | a0005c0005t0005g0017 a0005c0005t0005g0241 |
2 | 264 | 0.0076 | -47 | c.-31 others(58): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2601 | chr4 | TogoVar | |||||||
GUCY2C_chr12_14607632_14701599 | 14696960 | GTGTATAT others(40): Show |
G | upstream_gene_variant | MODIFIER | HG02723.hp1 NA19043.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0210 a0001c0002t0001g0211 |
2 | 229 | 0.0087 | -47 | c.-55 others(56): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 362 | chr12 | TogoVar | |||||||
H2AB2_chrX_155375709_155386299 | 155385567 | AGGCTGTT others(40): Show |
A | downstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 229 | 0.0044 | -47 | c.*44 others(58): Show |
H2AB2 | ENSG00000277858.2 | transcript | ENST00000354514.6 | protein_coding | 4269 | chrX | TogoVar | |||||||
H4C15_chr1_149855764_149866159 | 149865947 | AAAAGAAA others(40): Show |
A | upstream_gene_variant | MODIFIER | HG01071.hp2 HG01243.hp1 HG01255.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 3 | 196 | 0.0153 | -47 | c.-48 others(58): Show |
H4C15 | ENSG00000270276.3 | transcript | ENST00000579512.3 | protein_coding | 4789 | chr1 | TogoVar | |||||||
HACL1_chr3_15555699_15606569 | 15592028 | CATACGTA others(40): Show |
C | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 418 | 0.0024 | -47 | c.228 others(62): Show |
HACL1 | ENSG00000131373.15 | transcript | ENST00000321169.10 | protein_coding | 3/16 | chr3 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45540024 | TTTGTTAT others(40): Show |
T | intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 224 | 0.0045 | -47 | c.850 others(66): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 2/7 | chr5 | TogoVar | |||||||
HECTD4_chr12_112155195_112387431 | 112323975 | TTCCTTCC others(40): Show |
T | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0203 | 1 | 266 | 0.0038 | -47 | c.178 others(64): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | |||||||
HERC4_chr10_67916905_68080283 | 68059823 | CATAATAT others(40): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 | 1 | 349 | 0.0029 | -47 | c.226 others(66): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | |||||||
HERC4_chr10_67916905_68080283 | 68059841 | AATATATT others(40): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0289 | 1 | 314 | 0.0032 | -47 | c.226 others(66): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | |||||||
HHIPL1_chr14_99640129_99685569 | 99656845 | AAGGAAGG others(40): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01168.hp2 HG01358.hp1 others(3): Show |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0002a0001c0003t0004a0002c0004t0001 | a0001c0003t0002g0097 a0001c0003t0002g0309 a0001c0003t0002g0312 others(3): Show |
6 | 324 | 0.0185 | -47 | c.903 others(62): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HINT3_chr6_125951770_125985244 | 125962271 | CATACATA others(40): Show |
C | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 265 | 0.0038 | -47 | c.202 others(64): Show |
HINT3 | ENSG00000111911.7 | transcript | ENST00000229633.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HIVEP1_chr6_12007312_12169999 | 12044487 | CGCACCTG others(40): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0038 | 1 | 342 | 0.0029 | -47 | c.40+ others(64): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HLA-DRB1_chr6_32573775_32594848 | 32579626 | GAGTGCTG others(40): Show |
G | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02895.hp2 others(2): Show |
a0015 | a0015c0014 | a0015c0014t0013 | a0015c0014t0013g0013 | 5 | 208 | 0.0240 | -47 | c.788 others(62): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 5/5 | chr6 | TogoVar | |||||||
HMCN1_chr1_185729391_186195949 | 186086791 | TAGATGAT others(40): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG03041.hp1 |
a0018a0034 | a0018c0044a0034c0054 | a0018c0044t0003a0034c0054t0003 | a0018c0044t0003g0072 a0034c0054t0003g0027 |
2 | 22 | 0.0909 | -47 | c.904 others(64): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 58/106 | chr1 | TogoVar | |||||||
HRC_chr19_49146198_49160396 | 49156698 | TCCCCCTC others(40): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02258.hp2 HG02683.hp1 others(12): Show |
a0002a0003a0006others(2): Show | a0002c0002a0003c0033a0006c0006others(2): Show | a0002c0002t0001a0003c0033t0001a0006c0006t0001others(2): Show | a0002c0002t0001g0002 a0002c0002t0001g0014 a0003c0033t0001g0045 others(3): Show |
15 | 402 | 0.0373 | -47 | c.-15 others(58): Show |
HRC | ENSG00000130528.12 | transcript | ENST00000252825.9 | protein_coding | 1303 | chr19 | TogoVar | |||||||
HRH3_chr20_62209960_62225278 | 62213626 | ATGGGGGA others(40): Show |
A | downstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 365 | 0.0027 | -47 | c.*23 others(58): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 1333 | chr20 | TogoVar | |||||||
HSDL1_chr16_84117141_84150177 | 84142981 | AAAGAGCA others(40): Show |
A | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 446 | 0.0022 | -47 | c.-69 others(64): Show |
HSDL1 | ENSG00000103160.12 | transcript | ENST00000219439.9 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
HTR1F_chr3_87787706_87998839 | 87801982 | TTTCTTTC others(40): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01243.hp2 HG01975.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0231 a0001c0001t0002g0238 a0001c0001t0003g0002 others(15): Show |
19 | 248 | 0.0766 | -47 | c.-16 others(66): Show |
HTR1F | ENSG00000179097.7 | transcript | ENST00000319595.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IFT80_chr3_160251986_160404225 | 160351693 | CATAAAAA others(40): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01255.hp2 HG02055.hp1 others(17): Show |
a0002a0003a0005 | a0002c0002a0003c0004a0005c0005 | a0002c0002t0002a0002c0002t0004a0003c0004t0002others(1): Show | a0002c0002t0002g0004 a0002c0002t0002g0021 a0002c0002t0002g0022 others(16): Show |
20 | 210 | 0.0952 | -47 | c.777 others(64): Show |
IFT80 | ENSG00000068885.15 | transcript | ENST00000326448.12 | protein_coding | 8/19 | chr3 | TogoVar | |||||||
IGF1R_chr15_98643539_98969530 | 98825616 | CCAAAACC others(40): Show |
C | intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 208 | 0.0048 | -47 | c.641 others(66): Show |
IGF1R | ENSG00000140443.15 | transcript | ENST00000650285.1 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
IL1F10_chr2_113062970_113080843 | 113063669 | ATTCAAAT others(40): Show |
A | upstream_gene_variant | MODIFIER | NA19082.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0001 | 1 | 450 | 0.0022 | -47 | c.-43 others(58): Show |
IL1F10 | ENSG00000136697.13 | transcript | ENST00000341010.6 | protein_coding | 4300 | chr2 | TogoVar | |||||||
IL1RAPL1_chrX_28582446_29961718 | 28737144 | TCCTTCCT others(40): Show |
T | intron_variant | MODIFIER | HG02071.hp1 NA18962.hp1 NA18995.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0115 others(2): Show |
5 | 135 | 0.0370 | -47 | c.-24 others(66): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 1/10 | chrX | TogoVar | |||||||
IL33_chr9_6210807_6262983 | 6218880 | CATATATA others(40): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 356 | 0.0028 | -47 | c.-12 others(64): Show |
IL33 | ENSG00000137033.12 | transcript | ENST00000682010.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
INSC_chr11_15109923_15252208 | 15229971 | TATATATA others(40): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG02109.hp1 HG02486.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0002t0008 | a0001c0001t0002g0173 a0001c0001t0008g0147 a0001c0001t0008g0148 others(2): Show |
5 | 267 | 0.0187 | -47 | c.117 others(66): Show |
INSC | ENSG00000188487.12 | transcript | ENST00000379556.8 | protein_coding | 9/12 | chr11 | TogoVar | |||||||
INSR_chr19_7107265_7299414 | 7124563 | AAAAAAAA others(40): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0081 | 1 | 295 | 0.0034 | -47 | c.325 others(64): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | |||||||
INSR_chr19_7107265_7299414 | 7124565 | AAAAAAAA others(40): Show |
A | intron_variant | MODIFIER | HG02135.hp1 HG02630.hp2 |
a0001 | a0001c0001a0001c0041 | a0001c0001t0009a0001c0041t0124 | a0001c0001t0009g0241 a0001c0041t0124g0104 |
2 | 294 | 0.0068 | -47 | c.325 others(64): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | |||||||
INSYN2B_chr5_169856303_169985495 | 169972542 | CAGATAGA others(40): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01358.hp2 HG01993.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0002c0002t0001others(4): Show | a0001c0001t0002g0206 a0001c0001t0003g0015 a0002c0002t0001g0208 others(4): Show |
7 | 263 | 0.0266 | -47 | c.-91 others(66): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154357863 | AATATATA others(40): Show |
A | upstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0201 | 1 | 176 | 0.0057 | -47 | c.-13 others(58): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1061 | chr6 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68400737 | ATATTATA others(40): Show |
A | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 240 | 0.0042 | -47 | c.164 others(64): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31334566 | CTTCCTTC others(40): Show |
C | downstream_gene_variant | MODIFIER | HG02135.hp2 HG03486.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0070 a0002c0003t0003g0109 |
2 | 239 | 0.0084 | -47 | c.*28 others(58): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1690 | chr16 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26772456 | ATATAATA others(40): Show |
A | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0099 | 1 | 140 | 0.0071 | -47 | c.163 others(66): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar | |||||||
IZUMO3_chr9_24537952_24550897 | 24548327 | TTTAGGGG others(40): Show |
T | upstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 | 1 | 424 | 0.0024 | -47 | c.-27 others(58): Show |
IZUMO3 | ENSG00000205442.13 | transcript | ENST00000543880.7 | protein_coding | 2431 | chr9 | TogoVar | |||||||
JAG2_chr14_105135995_105173776 | 105149903 | TGGTAGGG others(40): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0055 | 1 | 362 | 0.0028 | -47 | c.160 others(64): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 12/25 | chr14 | TogoVar | |||||||
JAGN1_chr3_9885610_9899349 | 9899212 | AGGATTTC others(40): Show |
A | downstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 398 | 0.0025 | -47 | c.*58 others(58): Show |
JAGN1 | ENSG00000171135.15 | transcript | ENST00000647897.1 | protein_coding | 4864 | chr3 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79873391 | TGCTGGCC others(40): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 310 | 0.0032 | -47 | c.624 others(64): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37860887 | GACAGTAT others(40): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(70): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(67): Show | a0001c0001t0001g0020 a0001c0001t0002g0069 a0001c0001t0002g0070 others(70): Show |
73 | 196 | 0.3724 | -47 | c.-27 others(66): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
KCNQ4_chr1_40778787_40845452 | 40817428 | GGGGGGCT others(40): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG01070.hp1 HG01071.hp2 others(14): Show |
a0001 | a0001c0004a0001c0009 | a0001c0004t0001a0001c0004t0002a0001c0004t0003others(3): Show | a0001c0004t0001g0019 a0001c0004t0001g0269 a0001c0004t0001g0270 others(14): Show |
17 | 363 | 0.0468 | -47 | c.405 others(62): Show |
KCNQ4 | ENSG00000117013.17 | transcript | ENST00000347132.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 72941330 | TTCCTTCC others(40): Show |
T | intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0054 | 1 | 80 | 0.0125 | -47 | c.399 others(66): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNRG_chr13_50010444_50025922 | 50015085 | AAAAAAAA others(40): Show |
A | upstream_gene_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 441 | 0.0023 | -47 | c.-40 others(56): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 358 | chr13 | TogoVar | |||||||
KCNRG_chr13_50010444_50025922 | 50015087 | AAAAAAAA others(40): Show |
A | upstream_gene_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 431 | 0.0023 | -47 | c.-40 others(56): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 356 | chr13 | TogoVar | |||||||
KCNRG_chr13_50010444_50025922 | 50015089 | AAAAAAAT others(40): Show |
A | upstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | -47 | c.-40 others(56): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 354 | chr13 | TogoVar | |||||||
KCTD8_chr4_44168903_44453809 | 44182096 | ACAGCCGC others(40): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0275 | 1 | 294 | 0.0034 | -47 | c.962 others(64): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar |