| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RSPH1_chr21_42467486_42501224 | 42477225 | C | CCCCTCCA others(485): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0016 | a0001c0016t0004 | a0001c0016t0004g0184 | 1 | 122 | 0.0082 | 492 | c.727 others(505): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | |||||||
| RTEL1_chr20_63653312_63701245 | 63693540 | A | ACCACCAC others(485): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 36 | 0.0278 | 492 | c.299 others(509): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| SAMD12_chr8_118372984_118626963 | 118469545 | T | TAATATAT others(485): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 29 | 0.0345 | 492 | c.193 others(511): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
| SATL1_chrX_85087284_85248779 | 85088046 | G | GTATTAAT others(485): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014 | 1 | 196 | 0.0051 | 492 | c.*43 others(503): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 4237 | chrX | TogoVar | |||||||
| SATL1_chrX_85087284_85248779 | 85088046 | G | GTATTTAT others(485): Show |
downstream_gene_variant | MODIFIER | HG01358.hp1 NA18954.hp2 NA19076.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0125 others(1): Show |
4 | 199 | 0.0201 | 492 | c.*43 others(503): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 4237 | chrX | TogoVar | |||||||
| SCARB1_chr12_124771856_124868864 | 124839644 | T | TCCCAACA others(485): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0134 | 1 | 173 | 0.0058 | 492 | c.127 others(511): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
| SCARB1_chr12_124771856_124868864 | 124840024 | C | CACATGGG others(485): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01515.hp1 HG02698.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0006a0002c0008 | a0001c0001t0001a0001c0001t0004a0002c0006t0003others(2): Show | a0001c0001t0001g0092 a0001c0001t0004g0048 a0002c0006t0003g0008 others(2): Show |
5 | 25 | 0.2000 | 492 | c.127 others(511): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
| SCARB1_chr12_124771856_124868864 | 124840024 | C | CACATGGG others(485): Show |
intron_variant | MODIFIER | HG02257.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0014 | a0001c0001t0008g0126 a0001c0001t0014g0127 |
2 | 22 | 0.0909 | 492 | c.127 others(511): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
| SCARB1_chr12_124771856_124868864 | 124840024 | C | CACATGGG others(485): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01257.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0006a0002c0008 | a0001c0001t0001a0002c0006t0001a0002c0008t0001 | a0001c0001t0001g0130 a0001c0001t0001g0198 a0002c0006t0001g0003 others(3): Show |
6 | 26 | 0.2308 | 492 | c.127 others(511): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
| SCNN1D_chr1_1275436_1297025 | 1284171 | G | GGGGGGTT others(485): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0065 | 1 | 164 | 0.0061 | 492 | c.464 others(505): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1289433 | C | CCCCGTGT others(485): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0085 | 1 | 268 | 0.0037 | 492 | c.166 others(509): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SERINC5_chr5_80133727_80261048 | 80251897 | T | TATCAGAG others(485): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0028 | a0001c0002t0028g0148 | 1 | 132 | 0.0076 | 492 | c.27+ others(507): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
| SHOX_chrX_625791_656584 | 647345 | G | GAGACAGG others(485): Show |
3_prime_UTR_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0118 | a0001c0001t0118g0151 | 1 | 218 | 0.0046 | 492 | c.*28 others(503): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 5/5 | 3296 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| SHOX_chrX_625791_656584 | 647837 | C | CAGACAGG others(485): Show |
3_prime_UTR_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0019 | 1 | 167 | 0.0060 | 492 | c.*32 others(503): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 5/5 | 3756 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| SIMC1_chr5_176233424_176350989 | 176305290 | C | CCAGCCAC others(485): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 249 | 0.0040 | 492 | c.173 others(511): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| SLAIN1_chr13_77692687_77769229 | 77704211 | T | TATGTTTT others(485): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 181 | 0.0055 | 492 | c.626 others(509): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| SLC24A3_chr20_19207642_19727926 | 19663413 | C | CTCCTCCT others(485): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0016 | 1 | 89 | 0.0112 | 492 | c.688 others(509): Show |
SLC24A3 | ENSG00000185052.13 | transcript | ENST00000328041.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| SLC24A3_chr20_19207642_19727926 | 19663413 | C | CTCCTCCT others(485): Show |
intron_variant | MODIFIER | HG01074.hp1 HG06807.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0026 a0001c0003t0002g0102 |
2 | 90 | 0.0222 | 492 | c.688 others(509): Show |
SLC24A3 | ENSG00000185052.13 | transcript | ENST00000328041.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| SLC24A3_chr20_19207642_19727926 | 19663413 | C | CTCCTCCT others(485): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0036 | 1 | 89 | 0.0112 | 492 | c.688 others(509): Show |
SLC24A3 | ENSG00000185052.13 | transcript | ENST00000328041.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| SLC24A3_chr20_19207642_19727926 | 19663437 | C | CTCCTCCA others(485): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0071 | 1 | 89 | 0.0112 | 492 | c.688 others(509): Show |
SLC24A3 | ENSG00000185052.13 | transcript | ENST00000328041.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| SLC24A3_chr20_19207642_19727926 | 19663437 | C | CTCCTCCA others(485): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 89 | 0.0112 | 492 | c.688 others(509): Show |
SLC24A3 | ENSG00000185052.13 | transcript | ENST00000328041.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| SLC24A3_chr20_19207642_19727926 | 19663437 | C | CTCCTCCT others(485): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0070 | 1 | 89 | 0.0112 | 492 | c.688 others(509): Show |
SLC24A3 | ENSG00000185052.13 | transcript | ENST00000328041.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| SLC37A3_chr7_140328752_140403530 | 140387779 | A | AATATAAA others(485): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 280 | 0.0036 | 492 | c.-70 others(509): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | |||||||
| SLC37A3_chr7_140328752_140403530 | 140387779 | A | AATATAAA others(485): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0335 | 1 | 280 | 0.0036 | 492 | c.-70 others(509): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | |||||||
| SPNS3_chr17_4428940_4493204 | 4462330 | C | CACCAATC others(485): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0004 | a0004c0017 | a0004c0017t0002 | a0004c0017t0002g0331 | 1 | 324 | 0.0031 | 492 | c.111 others(511): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| SPNS3_chr17_4428940_4493204 | 4462342 | C | CACCAATC others(485): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02818.hp2 HG03209.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0002 | a0001c0001t0001g0035 a0001c0001t0002g0344 a0001c0003t0002g0127 |
3 | 349 | 0.0086 | 492 | c.111 others(511): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| SPNS3_chr17_4428940_4493204 | 4462390 | C | CACCAATC others(485): Show |
intron_variant | MODIFIER | HG03098.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0311 a0001c0004t0001g0027 |
2 | 263 | 0.0076 | 492 | c.111 others(511): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| SRBD1_chr2_45383680_45616267 | 45586968 | A | ATATTAAA others(485): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0081 | 1 | 284 | 0.0035 | 492 | c.649 others(509): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 4/20 | chr2 | TogoVar | |||||||
| TBC1D22A_chr22_46757650_47180693 | 47128216 | C | CCATCCTC others(485): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0016 others(2): Show |
5 | 11 | 0.4545 | 492 | c.142 others(513): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| THEG_chr19_356747_381026 | 376746 | G | GCCCCACC others(485): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 315 | 0.0032 | 492 | c.-77 others(501): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 721 | chr19 | TogoVar | |||||||
| THEG_chr19_356747_381026 | 376773 | C | CCCCACCC others(485): Show |
upstream_gene_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0302 | 1 | 337 | 0.0030 | 492 | c.-80 others(501): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 748 | chr19 | TogoVar | |||||||
| THNSL2_chr2_88165346_88191627 | 88181102 | C | CTCCTTCT others(485): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0021 | 1 | 49 | 0.0204 | 492 | c.803 others(509): Show |
THNSL2 | ENSG00000144115.18 | transcript | ENST00000674334.2 | protein_coding | 5/8 | chr2 | TogoVar | |||||||
| TNFRSF6B_chr20_63691652_63703684 | 63693540 | A | ACCACCAC others(485): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 18 | 0.0556 | 492 | c.-32 others(503): Show |
TNFRSF6B | ENSG00000243509.6 | transcript | ENST00000369996.3 | protein_coding | 3111 | chr20 | TogoVar | |||||||
| TNFRSF6B_chr20_63691652_63703684 | 63693576 | T | TCCACCTC others(485): Show |
upstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 27 | 0.0370 | 492 | c.-31 others(503): Show |
TNFRSF6B | ENSG00000243509.6 | transcript | ENST00000369996.3 | protein_coding | 3075 | chr20 | TogoVar | |||||||
| TNS1_chr2_217794791_218007995 | 217809324 | G | GATGGATG others(485): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0005 | a0005c0007 | a0005c0007t0023 | a0005c0007t0023g0180 | 1 | 240 | 0.0042 | 492 | c.527 others(509): Show |
TNS1 | ENSG00000079308.21 | transcript | ENST00000682258.1 | protein_coding | 30/32 | chr2 | TogoVar | |||||||
| TPK1_chr7_144446941_144841053 | 144780558 | T | TATATTAT others(485): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 80 | 0.0125 | 492 | c.44- others(509): Show |
TPK1 | ENSG00000196511.15 | transcript | ENST00000360057.7 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
| TRAF6_chr11_36478769_36515272 | 36507507 | G | GTATTATA others(485): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 270 | 0.0037 | 492 | c.-23 others(509): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
| TRAF6_chr11_36478769_36515272 | 36507567 | G | GTATATAT others(485): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0252 | 1 | 181 | 0.0055 | 492 | c.-23 others(509): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
| TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(485): Show |
downstream_gene_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 115 | 0.0087 | 492 | c.*29 others(503): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar | |||||||
| TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(485): Show |
downstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 115 | 0.0087 | 492 | c.*29 others(503): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar | |||||||
| TRPC4AP_chr20_34997404_35097807 | 35097669 | A | ATATACAT others(485): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0232 | 1 | 264 | 0.0038 | 492 | c.-48 others(503): Show |
TRPC4AP | ENSG00000100991.12 | transcript | ENST00000252015.3 | protein_coding | 4863 | chr20 | TogoVar | |||||||
| TSNARE1_chr8_142207080_142408182 | 142241901 | C | CAATCTCC others(485): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0097 | 1 | 205 | 0.0049 | 492 | c.144 others(513): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
| TSNARE1_chr8_142207080_142408182 | 142242122 | T | TGTGAGAC others(485): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 236 | 0.0042 | 492 | c.144 others(513): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
| TSNARE1_chr8_142207080_142408182 | 142242243 | T | TGCCGTAT others(485): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0090 | 1 | 82 | 0.0122 | 492 | c.144 others(513): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
| TSNARE1_chr8_142207080_142408182 | 142242243 | T | TGCCGTAT others(485): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02717.hp2 HG02886.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0002g0043 others(1): Show |
4 | 85 | 0.0471 | 492 | c.144 others(513): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
| TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(485): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0055 | 1 | 8 | 0.1250 | 492 | c.657 others(507): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| TWIST2_chr2_238843085_238915534 | 238870257 | C | CACACCAC others(485): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 335 | 0.0030 | 492 | c.*35 others(511): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| ULK1_chr12_131889622_131928150 | 131917167 | C | CGGGTTCG others(485): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0090 | 1 | 68 | 0.0147 | 492 | c.218 others(509): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| VCX2_chrX_8164944_8176267 | 8169826 | C | CCCTCCCT others(485): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 | 1 | 110 | 0.0091 | 492 | c.*20 others(501): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 117 | chrX | TogoVar | |||||||
| VPS16_chr20_2835745_2871732 | 2842868 | A | AGATAGAT others(485): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 301 | 0.0033 | 492 | c.53+ others(507): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |