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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNPH_chr20_1261294_1314327 | 1301962 | A | ATTTCTAA others(2874): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0168 | 1 | 323 | 0.0031 | 2881 | c.440 others(2898): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNPH_chr20_1261294_1314327 | 1301962 | A | ATTTCTAA others(2874): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0296 | 1 | 323 | 0.0031 | 2881 | c.440 others(2898): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNPH_chr20_1261294_1314327 | 1301962 | A | ATTTCTAA others(2874): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0043 | a0001c0001t0003g0070 a0001c0001t0043g0069 |
2 | 324 | 0.0062 | 2881 | c.440 others(2898): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNPH_chr20_1261294_1314327 | 1302258 | C | CCTCAAAA others(2874): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0279 | 1 | 348 | 0.0029 | 2881 | c.440 others(2898): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNPH_chr20_1261294_1314327 | 1302498 | A | ATTTCTAA others(2874): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0163 | 1 | 189 | 0.0053 | 2881 | c.440 others(2898): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2875): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0145 | 1 | 166 | 0.0060 | 2882 | c.173 others(2903): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2875): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0020 | a0020c0036 | a0020c0036t0002 | a0020c0036t0002g0048 | 1 | 166 | 0.0060 | 2882 | c.173 others(2903): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
DIP2B_chr12_50499985_50753657 | 50604179 | A | ACTCTGAA others(2875): Show |
intron_variant | MODIFIER | HG02015.hp2 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0035 |
2 | 223 | 0.0090 | 2882 | c.101 others(2901): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(2875): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0118 | 1 | 8 | 0.1250 | 2882 | c.400 others(2901): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236713593 | T | TCTGTGTG others(2876): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 318 | 0.0031 | 2883 | c.127 others(2900): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714265 | T | TGTGTGTT others(2876): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 335 | 0.0030 | 2883 | c.127 others(2900): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2876): Show |
intron_variant | MODIFIER | HG03490.hp2 NA18522.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0082 a0001c0002t0003g0097 |
2 | 167 | 0.0120 | 2883 | c.173 others(2904): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251268 | C | CCACACCC others(2876): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0031 | 1 | 89 | 0.0112 | 2883 | c.207 others(2902): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50604179 | A | ACTCTGAA others(2876): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00621.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0046 a0001c0003t0002g0058 |
2 | 223 | 0.0090 | 2883 | c.101 others(2902): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2876): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0153 | 1 | 32 | 0.0313 | 2883 | c.218 others(2898): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2876): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 2 | 0.5000 | 2883 | c.801 others(2900): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2876): Show |
upstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 3 | 0.3333 | 2883 | c.-28 others(2894): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(2877): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0009 | 1 | 312 | 0.0032 | 2884 | c.*85 others(2895): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | |||||||
CPN1_chr10_100037193_100086869 | 100078085 | A | ATTCATGC others(2877): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 346 | 0.0029 | 2884 | c.224 others(2901): Show |
CPN1 | ENSG00000120054.12 | transcript | ENST00000370418.8 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
DIP2B_chr12_50499985_50753657 | 50604179 | A | ACTCTGAA others(2877): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 222 | 0.0045 | 2884 | c.101 others(2903): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137355414 | G | GGGAGGAA others(2877): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0022 | a0022c0030 | a0022c0030t0001 | a0022c0030t0001g0015 | 1 | 76 | 0.0132 | 2884 | c.758 others(2899): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39064016 | T | TAAAAGTA others(2877): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0056 | 1 | 274 | 0.0036 | 2884 | c.130 others(2901): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 11/19 | chr14 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311379 | A | AGTGTGTG others(2877): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02922.hp2 HG03209.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0070 a0001c0001t0007g0068 a0001c0001t0007g0069 others(2): Show |
5 | 340 | 0.0147 | 2884 | c.327 others(2901): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311379 | A | AGTGTGTG others(2877): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0073 | 1 | 336 | 0.0030 | 2884 | c.327 others(2901): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294687 | A | AGTGGGGA others(2877): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0196 | 1 | 274 | 0.0036 | 2884 | c.340 others(2901): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2878): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0159 | 1 | 166 | 0.0060 | 2885 | c.173 others(2906): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(2878): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 312 | 0.0032 | 2885 | c.*85 others(2896): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | |||||||
CRTC1_chr19_18678680_18787333 | 18724802 | C | CTTTTCTT others(2878): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 272 | 0.0037 | 2885 | c.127 others(2904): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | chr19 | TogoVar | |||||||
EML6_chr2_54718662_54977025 | 54945196 | C | CCTCCCCT others(2878): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0193 | 1 | 262 | 0.0038 | 2885 | c.400 others(2904): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | chr2 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502044 | C | CCCCCCAC others(2878): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0003 | a0003c0003 | a0003c0003t0009 | a0003c0003t0009g0109 | 1 | 282 | 0.0035 | 2885 | c.218 others(2902): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2879): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0015 | a0015c0023 | a0015c0023t0001 | a0015c0023t0001g0120 | 1 | 288 | 0.0035 | 2886 | c.96+ others(2901): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(2879): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0026 | 2 | 313 | 0.0064 | 2886 | c.*85 others(2897): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | |||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(2879): Show |
intron_variant | MODIFIER | NA18990.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0115 a0001c0002t0004g0002 |
2 | 17 | 0.1176 | 2886 | c.164 others(2905): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706441 | G | GATAGATA others(2879): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0004 | a0001c0004t0015 | a0001c0004t0015g0189 | 1 | 227 | 0.0044 | 2886 | c.-49 others(2897): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4759 | chr4 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6261580 | G | GCCCTCCA others(2879): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0004 | a0004c0016 | a0004c0016t0003 | a0004c0016t0003g0271 | 1 | 188 | 0.0053 | 2886 | c.571 others(2903): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240185033 | C | CCCCCTTC others(2879): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0017 | a0002c0017t0004 | a0002c0017t0004g0068 | 1 | 126 | 0.0079 | 2886 | c.193 others(2905): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MORN1_chr1_2316253_2396554 | 2325121 | C | CCTTCCCT others(2879): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 53 | 0.0189 | 2886 | c.125 others(2903): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
NCOA3_chr20_47496887_47661872 | 47589926 | T | TTGTTTTC others(2879): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0004 | a0004c0006 | a0004c0006t0006 | a0004c0006t0006g0080 | 1 | 304 | 0.0033 | 2886 | c.-20 others(2903): Show |
NCOA3 | ENSG00000124151.19 | transcript | ENST00000371998.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2879): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 7 | 0.1429 | 2886 | c.*27 others(2897): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39064016 | T | TAAAAGTA others(2879): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0112 | 1 | 274 | 0.0036 | 2886 | c.130 others(2903): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 11/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39064016 | T | TAAAAGTA others(2879): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0153 | 1 | 274 | 0.0036 | 2886 | c.130 others(2903): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 11/19 | chr14 | TogoVar | |||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2879): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 3 | 0.3333 | 2886 | c.-28 others(2897): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2879): Show |
upstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 3 | 0.3333 | 2886 | c.-28 others(2897): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241590953 | T | TCGGCTGA others(2879): Show |
intron_variant | MODIFIER | HG01934.hp2 NA18960.hp2 NA19074.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0145 a0001c0001t0001g0146 |
5 | 155 | 0.0323 | 2886 | c.161 others(2905): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2880): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0016 | 1 | 166 | 0.0060 | 2887 | c.173 others(2908): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2880): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0064 | 1 | 166 | 0.0060 | 2887 | c.173 others(2908): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155503502 | C | CAAAAGTG others(2880): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 179 | 0.0056 | 2887 | c.420 others(2906): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 2/27 | chr1 | TogoVar | |||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(2880): Show |
intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 16 | 0.0625 | 2887 | c.164 others(2906): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(2880): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0178 | 1 | 158 | 0.0063 | 2887 | c.126 others(2904): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(2880): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0125 | 1 | 8 | 0.1250 | 2887 | c.400 others(2906): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |