| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RSPH1_chr21_42467486_42501224 | 42477029 | C | CCCCTCCA others(230): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0132 | 1 | 408 | 0.0025 | 237 | c.727 others(252): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | ||||||
| RSPH1_chr21_42467486_42501224 | 42477183 | A | ACCCCTCC others(230): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 408 | 0.0025 | 237 | c.727 others(252): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | ||||||
| RTEL1_chr20_63653312_63701245 | 63693448 | G | GCACCACC others(230): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0027 | 1 | 60 | 0.0167 | 237 | c.299 others(254): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| SARDH_chr9_133658560_133743352 | 133669235 | T | TCCCTCAC others(230): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0009 | a0009c0047 | a0009c0047t0004 | a0009c0047t0004g0065 | 1 | 262 | 0.0038 | 237 | c.249 others(256): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1284171 | G | GGGGGGTT others(230): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0008 | a0008c0007 | a0008c0007t0004 | a0008c0007t0004g0287 | 1 | 290 | 0.0035 | 237 | c.464 others(250): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SCNN1D_chr1_1275436_1297025 | 1284171 | G | GGGGGGTT others(230): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0152 | 1 | 290 | 0.0035 | 237 | c.464 others(250): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SCUBE1_chr22_43192280_43348372 | 43339728 | A | ATCCCCCC others(230): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0009 | a0002c0009t0025 | a0002c0009t0025g0070 | 1 | 280 | 0.0036 | 237 | c.89- others(250): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | ||||||
| SEZ6L_chr22_26164462_26388596 | 26209991 | G | GAGGAAGG others(230): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0144 | 1 | 240 | 0.0042 | 237 | c.94+ others(254): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| SIGIRR_chr11_400716_419999 | 413968 | G | GTCTGCCT others(230): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 242 | 0.0041 | 237 | c.-15 others(254): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
| SLC2A5_chr1_9030106_9074635 | 9053402 | T | TATATATT others(230): Show |
intron_variant | MODIFIER | HG02723.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0121a0001c0001t0003g0122 | 2 | 336 | 0.0060 | 237 | c.293 others(254): Show |
SLC2A5 | ENSG00000142583.18 | transcript | ENST00000377424.9 | protein_coding | 3/11 | chr1 | TogoVar | ||||||
| SNAPC4_chr9_136370571_136405170 | 136403390 | C | CCCAGGGA others(230): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 380 | 0.0026 | 237 | c.-32 others(248): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 3221 | chr9 | TogoVar | ||||||
| SNX18_chr5_54512759_54551586 | 54513823 | A | ATATATAT others(230): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0172 | 1 | 390 | 0.0026 | 237 | c.-41 others(248): Show |
SNX18 | ENSG00000178996.14 | transcript | ENST00000381410.5 | protein_coding | 3935 | chr5 | TogoVar | ||||||
| SNX9_chr6_157818246_157950077 | 157827466 | C | CATATATT others(230): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0278a0001c0001t0003g0296 | 2 | 302 | 0.0066 | 237 | c.12+ others(252): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | ||||||
| SNX9_chr6_157818246_157950077 | 157827515 | A | ATATATTA others(230): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 302 | 0.0033 | 237 | c.12+ others(252): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SPAG16_chr2_213279464_214415501 | 213866585 | C | CAGCTAAA others(230): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 86 | 0.0116 | 237 | c.121 others(256): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SPATA13_chr13_24155720_24312069 | 24190154 | T | TAATGATA others(230): Show |
intron_variant | MODIFIER | HG01099.hp2 HG03490.hp2 HG03710.hp1 |
a0001a0007 | a0001c0002a0007c0015 | a0001c0002t0008a0007c0015t0032a0007c0015t0078 | a0001c0002t0008g0090a0007c0015t0032g0244a0007c0015t0078g0349 | 3 | 356 | 0.0084 | 237 | c.-11 others(258): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| SPDYE4_chr17_8745853_8763546 | 8746874 | C | CCCTTCCC others(230): Show |
downstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | 237 | c.*54 others(248): Show |
SPDYE4 | ENSG00000183318.12 | transcript | ENST00000689094.1 | protein_coding | 3978 | chr17 | TogoVar | ||||||
| SPIRE2_chr16_89823475_89876319 | 89852703 | G | GGCCCGTC others(230): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178a0001c0001t0001g0179 | 2 | 356 | 0.0056 | 237 | c.646 others(254): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | chr16 | TogoVar | ||||||
| SPTSSA_chr14_34427788_34467240 | 34443508 | T | TGTTGTGT others(230): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0014 | 1 | 344 | 0.0029 | 237 | c.113 others(254): Show |
SPTSSA | ENSG00000165389.7 | transcript | ENST00000298130.5 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
| STOML3_chr13_38960925_38995831 | 38988040 | A | ATATATTT others(230): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03098.hp2 HG03471.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0001 | a0001c0001t0004g0046a0001c0001t0004g0047a0002c0002t0001g0048 | 3 | 396 | 0.0076 | 237 | c.52+ others(252): Show |
STOML3 | ENSG00000133115.12 | transcript | ENST00000379631.9 | protein_coding | 1/6 | chr13 | TogoVar | ||||||
| TAF2_chr8_119725774_119837841 | 119788538 | T | TAAAATAT others(230): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00735.hp1 HG01081.hp1 others(15): Show |
a0001 | a0001c0001a0001c0018 | a0001c0001t0001a0001c0018t0001 | a0001c0001t0001g0178a0001c0001t0001g0179a0001c0001t0001g0185others(15): Show | 18 | 322 | 0.0559 | 237 | c.168 others(252): Show |
TAF2 | ENSG00000064313.13 | transcript | ENST00000378164.7 | protein_coding | 13/25 | chr8 | TogoVar | ||||||
| TAF2_chr8_119725774_119837841 | 119788538 | T | TAAAATAT others(230): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 322 | 0.0031 | 237 | c.168 others(252): Show |
TAF2 | ENSG00000064313.13 | transcript | ENST00000378164.7 | protein_coding | 13/25 | chr8 | TogoVar | ||||||
| TCF3_chr19_1604292_1657615 | 1627805 | A | ACGGGGGG others(230): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0175 | 1 | 352 | 0.0028 | 237 | c.299 others(252): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| TCF3_chr19_1604292_1657615 | 1628254 | C | CGGGGTGA others(230): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0003 | a0003c0006 | a0003c0006t0012 | a0003c0006t0012g0329 | 1 | 352 | 0.0028 | 237 | c.299 others(252): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| TCF3_chr19_1604292_1657615 | 1628292 | G | GGTGAGGC others(230): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0011 | 1 | 352 | 0.0028 | 237 | c.299 others(252): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| TCF3_chr19_1604292_1657615 | 1628458 | A | ACGGGGGT others(230): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0285 | 1 | 352 | 0.0028 | 237 | c.299 others(254): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| TCF3_chr19_1604292_1657615 | 1628737 | G | GGGGGTGA others(230): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0244 | 1 | 352 | 0.0028 | 237 | c.299 others(254): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| TCF3_chr19_1604292_1657615 | 1629112 | A | AGGTGGGA others(230): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01074.hp1 HG01257.hp2 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0011a0001c0004t0081 | a0001c0004t0003g0153a0001c0004t0011g0134a0001c0004t0011g0135others(3): Show | 6 | 352 | 0.0171 | 237 | c.299 others(254): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| TCF3_chr19_1604292_1657615 | 1629129 | C | CAGAGCTC others(230): Show |
intron_variant | MODIFIER | HG00423.hp2 HG03710.hp1 HG03834.hp1 |
a0001a0003a0017 | a0001c0003a0003c0006a0017c0026 | a0001c0003t0059a0003c0006t0001a0017c0026t0002 | a0001c0003t0059g0187a0003c0006t0001g0148a0017c0026t0002g0112 | 3 | 352 | 0.0085 | 237 | c.299 others(254): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| TERT_chr5_1248167_1300068 | 1273402 | A | ACACATCA others(230): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0095 | 1 | 392 | 0.0026 | 237 | c.228 others(256): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
| THEG_chr19_356747_381026 | 376674 | T | TCCAGCCT others(230): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0045 | 1 | 370 | 0.0027 | 237 | c.-70 others(246): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 649 | chr19 | TogoVar | ||||||
| THEG_chr19_356747_381026 | 376748 | C | CCCCACCC others(230): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 370 | 0.0027 | 237 | c.-77 others(246): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 723 | chr19 | TogoVar | ||||||
| THEG_chr19_356747_381026 | 376773 | C | CCCCACCC others(230): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0003 | a0003c0004 | a0003c0004t0009 | a0003c0004t0009g0086 | 1 | 370 | 0.0027 | 237 | c.-80 others(246): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 748 | chr19 | TogoVar | ||||||
| THEG_chr19_356747_381026 | 376881 | C | CCACCCAG others(230): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0003 | a0001c0003t0034 | a0001c0003t0034g0017 | 1 | 370 | 0.0027 | 237 | c.-91 others(246): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 856 | chr19 | TogoVar | ||||||
| THEG_chr19_356747_381026 | 376951 | C | CTCTGTGC others(230): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 | 1 | 370 | 0.0027 | 237 | c.-98 others(246): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 926 | chr19 | TogoVar | ||||||
| THEG_chr19_356747_381026 | 377184 | T | TCTGTGCC others(230): Show |
upstream_gene_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 370 | 0.0027 | 237 | c.-12 others(248): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1159 | chr19 | TogoVar | ||||||
| THEG_chr19_356747_381026 | 377340 | C | CCTGTGCC others(230): Show |
upstream_gene_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0187 | 1 | 370 | 0.0027 | 237 | c.-13 others(248): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1315 | chr19 | TogoVar | ||||||
| THEG_chr19_356747_381026 | 377502 | C | CCCCACCC others(230): Show |
upstream_gene_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0344 | 1 | 370 | 0.0027 | 237 | c.-15 others(248): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1477 | chr19 | TogoVar | ||||||
| THEG_chr19_356747_381026 | 377502 | C | CCCCCACC others(230): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01175.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0214a0001c0001t0003g0215 | 2 | 370 | 0.0054 | 237 | c.-15 others(248): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1477 | chr19 | TogoVar | ||||||
| THEG_chr19_356747_381026 | 377528 | G | GCCCCACC others(230): Show |
upstream_gene_variant | MODIFIER | HG02083.hp1 NA18747.hp1 |
a0002a0012 | a0002c0002a0012c0034 | a0002c0002t0001a0012c0034t0004 | a0002c0002t0001g0265a0012c0034t0004g0256 | 2 | 370 | 0.0054 | 237 | c.-15 others(248): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1503 | chr19 | TogoVar | ||||||
| THEG_chr19_356747_381026 | 377528 | G | GCCCCACC others(230): Show |
upstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 370 | 0.0027 | 237 | c.-15 others(248): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1503 | chr19 | TogoVar | ||||||
| THEG_chr19_356747_381026 | 377606 | G | GCCCCCAC others(230): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0098 | 1 | 370 | 0.0027 | 237 | c.-16 others(248): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1581 | chr19 | TogoVar | ||||||
| THNSL2_chr2_88165346_88191627 | 88181414 | T | TCTCTCTC others(230): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0021 | 1 | 54 | 0.0185 | 237 | c.803 others(254): Show |
THNSL2 | ENSG00000144115.18 | transcript | ENST00000674334.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TIMM22_chr17_992129_1008671 | 993427 | C | CCTCACAT others(230): Show |
upstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0003 | 1 | 439 | 0.0023 | 237 | c.-37 others(248): Show |
TIMM22 | ENSG00000177370.5 | transcript | ENST00000327158.5 | protein_coding | 3701 | chr17 | TogoVar | ||||||
| TIMM22_chr17_992129_1008671 | 993489 | A | ACCTCACA others(230): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02451.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(3): Show | a0001c0001t0001g0029a0001c0001t0001g0103a0001c0001t0001g0108others(14): Show | 22 | 439 | 0.0501 | 237 | c.-36 others(248): Show |
TIMM22 | ENSG00000177370.5 | transcript | ENST00000327158.5 | protein_coding | 3639 | chr17 | TogoVar | ||||||
| TIMM22_chr17_992129_1008671 | 993489 | A | ACCTCACA others(230): Show |
upstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0038 | 1 | 439 | 0.0023 | 237 | c.-36 others(248): Show |
TIMM22 | ENSG00000177370.5 | transcript | ENST00000327158.5 | protein_coding | 3639 | chr17 | TogoVar | ||||||
| TMCO3_chr13_113486021_113555229 | 113543205 | T | TGTCTGTG others(230): Show |
intron_variant | MODIFIER | HG03688.hp1 HG03942.hp2 |
a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0030a0003c0002t0002g0067 | 2 | 368 | 0.0054 | 237 | c.169 others(256): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 10/12 | chr13 | TogoVar | ||||||
| TMEM132B_chr12_125181386_125667369 | 125612926 | T | TTGTATAA others(230): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0027 | a0001c0027t0009 | a0001c0027t0009g0013 | 1 | 128 | 0.0078 | 237 | c.143 others(258): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| TMEM132C_chr12_128262170_128712911 | 128647794 | G | GTGAGTGT others(230): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0038 | a0002c0038t0002 | a0002c0038t0002g0014 | 1 | 170 | 0.0059 | 237 | c.130 others(258): Show |
TMEM132C | ENSG00000181234.10 | transcript | ENST00000435159.3 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| TMEM242_chr6_157284025_157328519 | 157312578 | G | GACCTCAT others(230): Show |
intron_variant | MODIFIER | NA18943.hp2 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 2 | 344 | 0.0058 | 237 | c.327 others(254): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar |