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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EML4_chr2_42164353_42337548 | 42306484 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0069 | 1 | 90 | 0.0111 | 27 | c.196 others(46): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54797164 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0264 | 1 | 118 | 0.0085 | 27 | c.198 others(46): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54806612 | C | CCAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0032 | a0001c0002t0032g0141 | 1 | 5 | 0.2000 | 27 | c.198 others(44): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 2/41 | chr2 | TogoVar | |||||||
EML6_chr2_54718662_54977025 | 54882857 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02970.hp2 |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0003 | a0001c0005t0001g0081 a0001c0005t0003g0118 |
2 | 95 | 0.0211 | 27 | c.243 others(46): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 17/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54882873 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0215 | 1 | 222 | 0.0045 | 27 | c.243 others(46): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 17/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54961184 | G | GTTGTTTT others(20): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0006 | a0006c0033 | a0006c0033t0001 | a0006c0033t0001g0208 | 1 | 22 | 0.0455 | 27 | c.496 others(44): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 35/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54961184 | G | GTTGTTTT others(20): Show |
intron_variant | MODIFIER | HG02135.hp2 HG03209.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0014 | a0001c0001t0001g0034 a0001c0001t0007g0026 a0001c0001t0014g0008 others(1): Show |
4 | 25 | 0.1600 | 27 | c.496 others(44): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 35/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54961184 | G | GTTGTTTT others(20): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00738.hp2 HG01081.hp2 others(33): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(23): Show | a0001c0001t0001g0048 a0001c0001t0001g0177 a0001c0001t0001g0183 others(33): Show |
36 | 57 | 0.6316 | 27 | c.496 others(44): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 35/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54961184 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02135.hp1 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0105 a0001c0001t0004g0259 |
2 | 23 | 0.0870 | 27 | c.496 others(44): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 35/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EMP2_chr16_10523422_10585598 | 10575237 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0059 | 1 | 3 | 0.3333 | 27 | c.-61 others(44): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
ENDOG_chr9_128813500_128827676 | 128820565 | T | TCTATCAG others(20): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0022 | 1 | 418 | 0.0024 | 27 | c.502 others(42): Show |
ENDOG | ENSG00000167136.7 | transcript | ENST00000372642.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 667456 | A | ATGGAGAT others(20): Show |
downstream_gene_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0221 | 1 | 361 | 0.0028 | 27 | c.*68 others(38): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2861 | chr18 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43247883 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0097 | 1 | 8 | 0.1250 | 27 | c.161 others(48): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 14/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43718676 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0163 | 1 | 103 | 0.0097 | 27 | c.-28 others(48): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 1/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43753961 | A | ACTGATGT others(20): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(151): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0080 a0001c0001t0001g0098 a0001c0001t0002g0006 others(151): Show |
154 | 186 | 0.8280 | 27 | c.-28 others(48): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 1/16 | chr13 | TogoVar | |||||||
ENPP3_chr6_131632302_131752410 | 131641799 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02055.hp1 HG04184.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0146 a0001c0002t0001g0175 a0001c0002t0001g0176 |
3 | 104 | 0.0288 | 27 | c.154 others(42): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ENTPD2_chr9_137043107_137059061 | 137045586 | A | AGGCCTGA others(20): Show |
downstream_gene_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0130 | 1 | 398 | 0.0025 | 27 | c.*30 others(38): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 2520 | chr9 | TogoVar | |||||||
ENTPD4_chr8_23424162_23462647 | 23427124 | C | CAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 HG04204.hp2 NA20905.hp1 others(1): Show |
a0001a0004 | a0001c0003a0004c0007 | a0001c0003t0001a0004c0007t0047 | a0001c0003t0001g0004 a0004c0007t0047g0148 |
4 | 45 | 0.0889 | 27 | c.*58 others(38): Show |
ENTPD4 | ENSG00000197217.13 | transcript | ENST00000358689.9 | protein_coding | 2037 | chr8 | TogoVar | |||||||
ENTREP3_chr1_155242205_155260483 | 155252723 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 355 | 0.0028 | 27 | c.622 others(42): Show |
ENTREP3 | ENSG00000160767.23 | transcript | ENST00000361361.7 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
EOMES_chr3_27710953_27727323 | 27711316 | A | ATATATAT others(20): Show |
downstream_gene_variant | MODIFIER | NA18975.hp1 NA19063.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0010 a0002c0002t0002g0047 |
2 | 241 | 0.0083 | 27 | c.*57 others(38): Show |
EOMES | ENSG00000163508.13 | transcript | ENST00000449599.4 | protein_coding | 4636 | chr3 | TogoVar | |||||||
EOMES_chr3_27710953_27727323 | 27711316 | A | ATATATAT others(20): Show |
downstream_gene_variant | MODIFIER | NA18992.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0010 | 1 | 240 | 0.0042 | 27 | c.*57 others(38): Show |
EOMES | ENSG00000163508.13 | transcript | ENST00000449599.4 | protein_coding | 4636 | chr3 | TogoVar | |||||||
EP300_chr22_41087592_41185077 | 41154376 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01993.hp1 HG02148.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0131 a0002c0003t0002g0148 a0002c0003t0002g0152 others(1): Show |
4 | 83 | 0.0482 | 27 | c.314 others(44): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EPAS1_chr2_46292407_46391697 | 46359257 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0016 | a0001c0016t0005 | a0001c0016t0005g0032 | 1 | 62 | 0.0161 | 27 | c.455 others(44): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 130972937 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0200 | 1 | 20 | 0.0500 | 27 | c.-14 others(46): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 1/19 | chr6 | TogoVar | |||||||
EPB41L3_chr18_5387386_5548997 | 5488579 | G | GATAATAA others(20): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 190 | 0.0053 | 27 | c.183 others(42): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | TogoVar | |||||||
EPB41L3_chr18_5387386_5548997 | 5505739 | C | CCTTCACC others(20): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 220 | 0.0045 | 27 | c.-11 others(46): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | TogoVar | |||||||
EPB41L4A_chr5_112157619_112424277 | 112339542 | A | ATATATCT others(20): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0006 | a0006c0023 | a0006c0023t0002 | a0006c0023t0002g0013 | 1 | 117 | 0.0085 | 27 | c.100 others(46): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
EPB41L4B_chr9_109166974_109326059 | 109226670 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0143 | 1 | 312 | 0.0032 | 27 | c.141 others(46): Show |
EPB41L4B | ENSG00000095203.15 | transcript | ENST00000374566.8 | protein_coding | 15/25 | chr9 | TogoVar | |||||||
EPB41L4B_chr9_109166974_109326059 | 109288722 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0116 | 1 | 11 | 0.0909 | 27 | c.307 others(44): Show |
EPB41L4B | ENSG00000095203.15 | transcript | ENST00000374566.8 | protein_coding | 1/25 | chr9 | TogoVar | |||||||
EPB41L5_chr2_120008077_120184119 | 120069128 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 5 | 0.2000 | 27 | c.286 others(44): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EPB41_chr1_28909569_29125041 | 28921938 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 133 | 0.0075 | 27 | c.-8+ others(42): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | chr1 | TogoVar | |||||||
EPB41_chr1_28909569_29125041 | 28935467 | A | ACACACAC others(20): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 152 | 0.0066 | 27 | c.-8+ others(44): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPB41_chr1_28909569_29125041 | 28935468 | C | CACACACA others(20): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 1 | 274 | 0.0036 | 27 | c.-8+ others(44): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | chr1 | TogoVar | |||||||
EPC2_chr2_148639751_148792569 | 148774622 | T | TTATATTA others(20): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG01346.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0049 a0001c0001t0002g0060 a0001c0001t0002g0063 others(6): Show |
9 | 218 | 0.0413 | 27 | c.172 others(46): Show |
EPC2 | ENSG00000135999.12 | transcript | ENST00000258484.11 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EPDR1_chr7_37915640_37956936 | 37937985 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG01123.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0081 a0001c0001t0001g0181 a0001c0001t0002g0153 others(8): Show |
11 | 15 | 0.7333 | 27 | c.270 others(46): Show |
EPDR1 | ENSG00000086289.13 | transcript | ENST00000199448.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EPHA3_chr3_89102621_89487134 | 89208423 | G | GAAGGAAG others(20): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 59 | 0.0169 | 27 | c.154 others(44): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHA4_chr2_221413027_221577304 | 221566927 | A | AGAGGAAG others(20): Show |
intron_variant | MODIFIER | HG03579.hp2 NA19240.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0036a0001c0003t0003 | a0001c0001t0036g0113 a0001c0003t0003g0114 |
2 | 278 | 0.0072 | 27 | c.159 others(44): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
EPHA4_chr2_221413027_221577304 | 221566956 | G | GAGAAGGA others(20): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02895.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0030a0001c0001t0039 | a0001c0001t0008g0199 a0001c0001t0030g0195 a0001c0001t0039g0198 |
3 | 106 | 0.0283 | 27 | c.159 others(44): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
EPHA4_chr2_221413027_221577304 | 221566969 | G | GGAAGAAG others(20): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01071.hp1 HG01167.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0207 others(5): Show |
8 | 64 | 0.1250 | 27 | c.159 others(44): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
EPHA4_chr2_221413027_221577304 | 221566969 | G | GGAAGAGG others(20): Show |
intron_variant | MODIFIER | HG01978.hp2 NA19068.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0209 a0001c0010t0001g0201 |
2 | 58 | 0.0345 | 27 | c.159 others(44): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
EPHA4_chr2_221413027_221577304 | 221566969 | G | GGAAGAGG others(20): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0050 | 1 | 57 | 0.0175 | 27 | c.159 others(44): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
EPHA5_chr4_65314567_65675489 | 65576054 | G | GAAAGAAA others(20): Show |
intron_variant | MODIFIER | HG01074.hp2 NA18989.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0164 a0001c0002t0002g0168 |
2 | 200 | 0.0100 | 27 | c.910 others(46): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 3/16 | chr4 | TogoVar | |||||||
EPHA5_chr4_65314567_65675489 | 65650559 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0001 | 1 | 53 | 0.0189 | 27 | c.182 others(44): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 1/16 | chr4 | TogoVar | |||||||
EPHA6_chr3_96809594_97766532 | 96964990 | T | TCTGGTCA others(20): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0045 | 1 | 82 | 0.0122 | 27 | c.451 others(46): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 2/17 | chr3 | TogoVar | |||||||
EPHB1_chr3_134790260_135265467 | 134882757 | C | CCTTTCTT others(20): Show |
intron_variant | MODIFIER | HG03017.hp1 HG04199.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0001 | a0001c0002t0002g0011 a0001c0004t0001g0009 |
2 | 108 | 0.0185 | 27 | c.59- others(44): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHB1_chr3_134790260_135265467 | 134882765 | C | CCTTTCTT others(20): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01978.hp1 HG01981.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0016others(2): Show | a0001c0001t0001g0051 a0001c0001t0001g0062 a0001c0002t0001g0021 others(5): Show |
8 | 22 | 0.3636 | 27 | c.59- others(44): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHB1_chr3_134790260_135265467 | 134972487 | C | CATTATAT others(20): Show |
intron_variant | MODIFIER | HG02602.hp2 HG02738.hp2 HG03098.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001a0001c0004t0002 | a0001c0002t0001g0065 a0001c0004t0001g0039 a0001c0004t0002g0131 |
3 | 62 | 0.0484 | 27 | c.805 others(46): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPN2_chr17_19232366_19341715 | 19289724 | G | GTTTTGTT others(20): Show |
intron_variant | MODIFIER | NA18977.hp2 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 a0001c0001t0001g0085 |
2 | 51 | 0.0392 | 27 | c.766 others(44): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EPPK1_chr8_143852324_143883467 | 143878395 | C | CCCGCACC others(20): Show |
intron_variant | MODIFIER | HG02109.hp1 NA18998.hp2 NA19081.hp2 |
a0032a0086a0159 | a0032c0014a0086c0229a0159c0078 | a0032c0014t0007a0086c0229t0009a0159c0078t0002 | a0032c0014t0007g0086 a0086c0229t0009g0240 a0159c0078t0002g0085 |
3 | 154 | 0.0195 | 27 | c.-46 others(40): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
EPPK1_chr8_143852324_143883467 | 143878413 | G | GCCGCACC others(20): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0343 | 1 | 413 | 0.0024 | 27 | c.-46 others(40): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 1/1 | chr8 | TogoVar |