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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAM120B_chr6_170301758_170412067 | 170398553 | A | AAAGGTAG others(5004): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 289 | 0.0035 | 5011 | c.269 others(5030): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170398553 | A | AAAGGTAG others(5004): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0203 | 1 | 289 | 0.0035 | 5011 | c.269 others(5030): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5005): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 266 | 0.0038 | 5012 | c.-34 others(5027): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5005): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 266 | 0.0038 | 5012 | c.-34 others(5027): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 965072 | A | AAAGGAAA others(5006): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 268 | 0.0037 | 5013 | c.137 others(5030): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237544411 | G | GTGAGTGG others(5006): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0221 | 1 | 286 | 0.0035 | 5013 | c.153 others(5032): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5007): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 50 | 0.0200 | 5014 | c.287 others(5033): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(5007): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 279 | 0.0036 | 5014 | c.215 others(5031): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(5008): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 268 | 0.0037 | 5015 | c.136 others(5032): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964985 | G | GTGGAAAG others(5008): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0135 | 1 | 268 | 0.0037 | 5015 | c.137 others(5032): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(5008): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0304 | 1 | 328 | 0.0031 | 5015 | c.225 others(5032): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(5008): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0253 | 1 | 328 | 0.0031 | 5015 | c.225 others(5032): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132243305 | A | ACCCATTA others(5010): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 183 | 0.0055 | 5017 | c.107 others(5036): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311001 | C | CATCATAG others(5012): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0068 | 1 | 344 | 0.0029 | 5019 | c.327 others(5036): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
SHD_chr19_4274266_4295722 | 4295260 | C | CAAAAAAA others(5013): Show |
downstream_gene_variant | MODIFIER | NA20752.hp2 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0011 | 1 | 462 | 0.0022 | 5020 | c.*46 others(5031): Show |
SHD | ENSG00000105251.11 | transcript | ENST00000543264.7 | protein_coding | 4539 | chr19 | TogoVar | |||||||
TMIGD2_chr19_4287227_4307389 | 4295260 | C | CAAAAAAA others(5013): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 436 | 0.0023 | 5020 | c.407 others(5035): Show |
TMIGD2 | ENSG00000167664.9 | transcript | ENST00000595645.6 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
PRKX_chrX_3599340_3718649 | 3639445 | A | ATGAAGGG others(5016): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0004 | a0004c0010 | a0004c0010t0008 | a0004c0010t0008g0178 | 1 | 227 | 0.0044 | 5023 | c.719 others(5040): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 4/8 | chrX | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1065227 | C | TTGTTATG others(5017): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 337 | 0.0030 | 5024 | c.118 others(5043): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5018): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 50 | 0.0200 | 5025 | c.287 others(5044): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5019): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 50 | 0.0200 | 5026 | c.287 others(5045): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(5021): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG01346.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0126 |
3 | 251 | 0.0120 | 5028 | c.-45 others(5037): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
DYNC2I1_chr7_158851558_158951189 | 158917089 | T | TACACGCT others(5027): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0195 | 1 | 274 | 0.0037 | 5034 | c.179 others(5053): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1223139 | T | TCTCCCTG others(5027): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0084 | 1 | 190 | 0.0053 | 5034 | c.719 others(5053): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(5030): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 279 | 0.0036 | 5037 | c.215 others(5054): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(5031): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0204 | 1 | 344 | 0.0029 | 5038 | c.127 others(5055): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(5031): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0227 | 1 | 344 | 0.0029 | 5038 | c.127 others(5055): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(5031): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0182 | 1 | 344 | 0.0029 | 5038 | c.127 others(5055): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(5031): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0045 a0001c0001t0010g0046 |
2 | 344 | 0.0058 | 5038 | c.127 others(5055): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5031): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 370 | 0.0027 | 5038 | c.891 others(5053): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(5031): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 251 | 0.0040 | 5038 | c.-45 others(5047): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236714890 | T | TAACCACT others(5032): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0217 | 1 | 344 | 0.0029 | 5039 | c.127 others(5056): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(5032): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0197 | 1 | 344 | 0.0029 | 5039 | c.127 others(5056): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181045807 | C | CTCCTCCA others(5032): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 390 | 0.0026 | 5039 | c.109 others(5054): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181045891 | G | GACACCTC others(5032): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 390 | 0.0026 | 5039 | c.109 others(5054): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5032): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0022 | 1 | 50 | 0.0200 | 5039 | c.287 others(5058): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5032): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 50 | 0.0200 | 5039 | c.287 others(5058): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5034): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 50 | 0.0200 | 5041 | c.287 others(5060): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(5035): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 236 | 0.0042 | 5042 | c.294 others(5059): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5036): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 50 | 0.0200 | 5043 | c.287 others(5062): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5037): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 50 | 0.0200 | 5044 | c.287 others(5063): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DISC1_chr1_231621790_232046272 | 231799889 | T | TTCCCTCC others(5037): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0008 | 1 | 40 | 0.0250 | 5044 | c.169 others(5061): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNOT3_chr19_54132762_54160681 | 54133789 | C | CCCCTCTC others(5038): Show |
upstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 223 | 0.0045 | 5045 | c.-42 others(5056): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3972 | chr19 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5038): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0005 | a0005c0006 | a0005c0006t0004 | a0005c0006t0004g0034 | 1 | 50 | 0.0200 | 5045 | c.287 others(5064): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133789 | C | CCCCTCTC others(5038): Show |
downstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 227 | 0.0044 | 5045 | c.*23 others(5056): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2077 | chr19 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5039): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 50 | 0.0200 | 5046 | c.287 others(5065): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5040): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 370 | 0.0027 | 5047 | c.891 others(5062): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5043): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0010 | a0010c0015 | a0010c0015t0007 | a0010c0015t0007g0036 | 1 | 50 | 0.0200 | 5050 | c.287 others(5069): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951603 | A | AAAAAAAA others(5044): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0282 | 1 | 324 | 0.0031 | 5051 | c.114 others(5068): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951602 | A | AAAAAAAA others(5045): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0086 | 1 | 324 | 0.0031 | 5052 | c.114 others(5069): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13951603 | A | AAAAAAAG others(5045): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0137 | 1 | 324 | 0.0031 | 5052 | c.114 others(5069): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar |