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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENOX1_chr13_43208130_43791972 | 43651695 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01257.hp1 HG01361.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0018others(6): Show | a0001c0001t0002g0036 a0001c0001t0002g0050 a0001c0001t0005g0145 others(11): Show |
14 | 188 | 0.0745 | 21 | c.-21 others(42): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | |||||||
ENPP2_chr8_119552086_119643839 | 119554357 | A | ATTTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0164 | 1 | 340 | 0.0029 | 21 | c.*31 others(32): Show |
ENPP2 | ENSG00000136960.13 | transcript | ENST00000075322.11 | protein_coding | 2728 | chr8 | TogoVar | |||||||
ENPP3_chr6_131632302_131752410 | 131641799 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01258.hp1 HG01978.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 others(15): Show |
18 | 278 | 0.0648 | 21 | c.154 others(36): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ENTPD1_chr10_95751163_95882266 | 95758002 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02630.hp1 HG02723.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0043 | a0001c0001t0001g0181 a0001c0001t0001g0318 a0001c0001t0001g0319 others(5): Show |
8 | 340 | 0.0235 | 21 | c.16+ others(36): Show |
ENTPD1 | ENSG00000138185.20 | transcript | ENST00000371205.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ENTPD4_chr8_23424162_23462647 | 23427124 | C | CAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG03209.hp2 HG03688.hp1 others(8): Show |
a0001a0011 | a0001c0001a0001c0003a0011c0010 | a0001c0001t0001a0001c0001t0031a0001c0001t0035others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0073 a0001c0001t0001g0118 others(6): Show |
11 | 412 | 0.0267 | 21 | c.*57 others(32): Show |
ENTPD4 | ENSG00000197217.13 | transcript | ENST00000358689.9 | protein_coding | 2037 | chr8 | TogoVar | |||||||
ENTPD8_chr9_137429364_137446357 | 137441055 | G | GCCCCCCC others(14): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 392 | 0.0026 | 21 | c.-21 others(36): Show |
ENTPD8 | ENSG00000188833.10 | transcript | ENST00000371506.7 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
ENTREP3_chr1_155242205_155260483 | 155252722 | A | ATATATAC others(14): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 395 | 0.0025 | 21 | c.622 others(36): Show |
ENTREP3 | ENSG00000160767.23 | transcript | ENST00000361361.7 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
ENTREP3_chr1_155242205_155260483 | 155252722 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 395 | 0.0025 | 21 | c.622 others(36): Show |
ENTREP3 | ENSG00000160767.23 | transcript | ENST00000361361.7 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
EOMES_chr3_27710953_27727323 | 27711316 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0011 | 1 | 400 | 0.0025 | 21 | c.*57 others(32): Show |
EOMES | ENSG00000163508.13 | transcript | ENST00000449599.4 | protein_coding | 4636 | chr3 | TogoVar | |||||||
EOMES_chr3_27710953_27727323 | 27711316 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0083 | 1 | 400 | 0.0025 | 21 | c.*57 others(32): Show |
EOMES | ENSG00000163508.13 | transcript | ENST00000449599.4 | protein_coding | 4636 | chr3 | TogoVar | |||||||
EOMES_chr3_27710953_27727323 | 27711317 | T | TATATATA others(14): Show |
downstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 400 | 0.0025 | 21 | c.*57 others(32): Show |
EOMES | ENSG00000163508.13 | transcript | ENST00000449599.4 | protein_coding | 4635 | chr3 | TogoVar | |||||||
EP300_chr22_41087592_41185077 | 41092446 | T | TGCGGCGG others(14): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0014 | 1 | 300 | 0.0033 | 21 | c.-55 others(30): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 145 | chr22 | TogoVar | |||||||
EP300_chr22_41087592_41185077 | 41154376 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0199 | 1 | 300 | 0.0033 | 21 | c.314 others(38): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 16/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EP400_chr12_131944942_132085460 | 132073459 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01884.hp2 HG02965.hp2 others(14): Show |
a0001a0003a0004others(2): Show | a0001c0003a0001c0059a0003c0004others(4): Show | a0001c0003t0002a0001c0003t0014a0001c0059t0002others(5): Show | a0001c0003t0002g0008 a0001c0003t0002g0011 a0001c0003t0002g0013 others(14): Show |
17 | 208 | 0.0817 | 21 | c.902 others(40): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EPAS1_chr2_46292407_46391697 | 46359257 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02970.hp1 NA18943.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0294 a0001c0001t0001g0303 |
2 | 326 | 0.0061 | 21 | c.455 others(38): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EPB41L2_chr6_130834347_131068245 | 130951312 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0248 | 1 | 356 | 0.0028 | 21 | c.705 others(38): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 3/19 | chr6 | TogoVar | |||||||
EPB41L2_chr6_130834347_131068245 | 130954040 | C | CTTTCTTT others(14): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0009 | a0009c0012 | a0009c0012t0003 | a0009c0012t0003g0191 | 1 | 356 | 0.0028 | 21 | c.705 others(38): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 3/19 | chr6 | TogoVar | |||||||
EPB41L2_chr6_130834347_131068245 | 130954040 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 356 | 0.0028 | 21 | c.705 others(38): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 3/19 | chr6 | TogoVar | |||||||
EPB41L2_chr6_130834347_131068245 | 130968099 | A | AACAGTAA others(14): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03195.hp2 HG03516.hp1 others(1): Show |
a0001a0003a0012 | a0001c0001a0003c0004a0012c0018 | a0001c0001t0001a0003c0004t0001a0012c0018t0001 | a0001c0001t0001g0352 a0003c0004t0001g0350 a0003c0004t0001g0351 others(1): Show |
4 | 356 | 0.0112 | 21 | c.-14 others(40): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 1/19 | chr6 | TogoVar | |||||||
EPB41L2_chr6_130834347_131068245 | 130972937 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA18994.hp1 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0180 a0001c0001t0003g0198 |
2 | 356 | 0.0056 | 21 | c.-14 others(40): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 1/19 | chr6 | TogoVar | |||||||
EPB41L3_chr18_5387386_5548997 | 5391830 | T | TAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | NA18975.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0189 | 1 | 222 | 0.0045 | 21 | c.*16 others(32): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 555 | chr18 | TogoVar | |||||||
EPB41L3_chr18_5387386_5548997 | 5488579 | G | GATAATAA others(14): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 222 | 0.0045 | 21 | c.183 others(36): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | TogoVar | |||||||
EPB41L4A_chr5_112157619_112424277 | 112293360 | C | CCCTCCTT others(14): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02055.hp2 HG02145.hp1 others(12): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0028a0001c0002t0002a0001c0002t0031others(10): Show | a0001c0001t0028g0014 a0001c0002t0002g0058 a0001c0002t0002g0061 others(12): Show |
15 | 228 | 0.0658 | 21 | c.205 others(40): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 2/22 | chr5 | TogoVar | |||||||
EPB41L4B_chr9_109166974_109326059 | 109288722 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02451.hp1 |
a0002a0009 | a0002c0003a0009c0020 | a0002c0003t0027a0009c0020t0035 | a0002c0003t0027g0008 a0009c0020t0035g0311 |
2 | 318 | 0.0063 | 21 | c.307 others(38): Show |
EPB41L4B | ENSG00000095203.15 | transcript | ENST00000374566.8 | protein_coding | 1/25 | chr9 | TogoVar | |||||||
EPB41_chr1_28909569_29125041 | 28935467 | A | ACACACAC others(14): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 312 | 0.0032 | 21 | c.-8+ others(38): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPC1_chr10_32262751_32352158 | 32290483 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02630.hp2 |
a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0216 a0001c0004t0006g0221 |
2 | 318 | 0.0063 | 21 | c.975 others(36): Show |
EPC1 | ENSG00000120616.16 | transcript | ENST00000319778.11 | protein_coding | 6/13 | chr10 | TogoVar | |||||||
EPC1_chr10_32262751_32352158 | 32290505 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0024 | 1 | 318 | 0.0031 | 21 | c.975 others(36): Show |
EPC1 | ENSG00000120616.16 | transcript | ENST00000319778.11 | protein_coding | 6/13 | chr10 | TogoVar | |||||||
EPC2_chr2_148639751_148792569 | 148774622 | T | TTATATTA others(14): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG00741.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0043 a0001c0001t0002g0052 a0001c0001t0002g0055 others(28): Show |
31 | 308 | 0.1007 | 21 | c.172 others(40): Show |
EPC2 | ENSG00000135999.12 | transcript | ENST00000258484.11 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EPC2_chr2_148639751_148792569 | 148776856 | C | CTCTCTTT others(14): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 308 | 0.0033 | 21 | c.172 others(40): Show |
EPC2 | ENSG00000135999.12 | transcript | ENST00000258484.11 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EPCAM_chr2_47364311_47392020 | 47368413 | C | CTCTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG01081.hp2 HG01106.hp2 others(11): Show |
a0001a0005 | a0001c0001a0001c0011a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0116 others(11): Show |
14 | 450 | 0.0311 | 21 | c.-10 others(32): Show |
EPCAM | ENSG00000119888.11 | transcript | ENST00000263735.9 | protein_coding | 897 | chr2 | TogoVar | |||||||
EPDR1_chr7_37915640_37956936 | 37937985 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01256.hp2 HG03704.hp1 NA19072.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0053 a0001c0001t0001g0123 a0001c0001t0004g0070 |
3 | 448 | 0.0067 | 21 | c.270 others(40): Show |
EPDR1 | ENSG00000086289.13 | transcript | ENST00000199448.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EPHA2_chr1_16119337_16161069 | 16136713 | A | AAAGAAGA others(14): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01516.hp1 HG01516.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0031 | a0001c0001t0001a0001c0005t0001a0001c0031t0001 | a0001c0001t0001g0182 a0001c0001t0001g0239 a0001c0005t0001g0004 others(1): Show |
6 | 312 | 0.0192 | 21 | c.131 others(38): Show |
EPHA2 | ENSG00000142627.13 | transcript | ENST00000358432.8 | protein_coding | 5/16 | chr1 | TogoVar | |||||||
EPHA3_chr3_89102621_89487134 | 89352902 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0005 | a0005c0009 | a0005c0009t0002 | a0005c0009t0002g0074 | 1 | 200 | 0.0050 | 21 | c.130 others(42): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHA4_chr2_221413027_221577304 | 221566963 | G | GGAAGAAG others(14): Show |
intron_variant | MODIFIER | HG02523.hp1 NA18963.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0260 a0001c0002t0001g0259 |
2 | 294 | 0.0068 | 21 | c.159 others(38): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
EPHA4_chr2_221413027_221577304 | 221566969 | G | GGAAGAAG others(14): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG00733.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 others(9): Show |
12 | 294 | 0.0408 | 21 | c.159 others(38): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
EPHA4_chr2_221413027_221577304 | 221566969 | G | GGAAGAGG others(14): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0079 | 1 | 294 | 0.0034 | 21 | c.159 others(38): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
EPHA5_chr4_65314567_65675489 | 65650559 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0009 | a0001c0009t0059 | a0001c0009t0059g0232 | 1 | 234 | 0.0043 | 21 | c.182 others(38): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 1/16 | chr4 | TogoVar | |||||||
EPHA6_chr3_96809594_97766532 | 97324405 | T | TTTTCTTT others(14): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0042 | 1 | 82 | 0.0122 | 21 | c.160 others(42): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHA8_chr1_22558489_22608595 | 22599736 | G | GAAGGAGG others(14): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01106.hp2 others(11): Show |
a0001a0010 | a0001c0001a0010c0024 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(4): Show | a0001c0001t0002g0011 a0001c0001t0002g0070 a0001c0001t0002g0133 others(10): Show |
14 | 342 | 0.0409 | 21 | c.238 others(38): Show |
EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPHB1_chr3_134790260_135265467 | 134811242 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01978.hp2 HG02602.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0003t0001a0001c0003t0006others(1): Show | a0001c0001t0002g0038 a0001c0003t0001g0048 a0001c0003t0006g0063 others(1): Show |
4 | 134 | 0.0299 | 21 | c.58+ others(38): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHB1_chr3_134790260_135265467 | 134918022 | G | GAACCCAG others(14): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0010 | a0001c0010t0008 | a0001c0010t0008g0104 | 1 | 134 | 0.0075 | 21 | c.59- others(36): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHB1_chr3_134790260_135265467 | 135025221 | A | ATTTATTT others(14): Show |
intron_variant | MODIFIER | HG03492.hp2 HG04204.hp1 NA20752.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002a0001c0004t0005 | a0001c0001t0001g0035 a0001c0004t0002g0041 a0001c0004t0005g0097 |
3 | 134 | 0.0224 | 21 | c.805 others(40): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHB2_chr1_22705839_22926500 | 22754818 | A | AGGGAGGT others(14): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01123.hp1 HG01123.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0031 a0001c0001t0001g0139 a0001c0001t0002g0032 others(7): Show |
10 | 248 | 0.0403 | 21 | c.62- others(38): Show |
EPHB2 | ENSG00000133216.17 | transcript | ENST00000374630.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPHB2_chr1_22705839_22926500 | 22768720 | G | GGTGTCTG others(14): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 248 | 0.0040 | 21 | c.62- others(38): Show |
EPHB2 | ENSG00000133216.17 | transcript | ENST00000374630.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPHX2_chr8_27486143_27550564 | 27501324 | T | TTTCTTCT others(14): Show |
intron_variant | MODIFIER | HG02735.hp1 HG02735.hp2 NA18949.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 others(4): Show |
7 | 374 | 0.0187 | 21 | c.186 others(36): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EPHX2_chr8_27486143_27550564 | 27501389 | T | TCTTCTTC others(14): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0007 | a0003c0007t0012 | a0003c0007t0012g0318 | 1 | 374 | 0.0027 | 21 | c.186 others(36): Show |
EPHX2 | ENSG00000120915.14 | transcript | ENST00000521400.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EPM2A_chr6_145620305_145740520 | 145729956 | C | CCTACACA others(14): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 320 | 0.0031 | 21 | c.301 others(38): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
EPN2_chr17_19232366_19341715 | 19318549 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG02071.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 others(5): Show |
8 | 282 | 0.0284 | 21 | c.114 others(40): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EPRS1_chr1_219963600_220051505 | 220044681 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0349 | 1 | 358 | 0.0028 | 21 | c.46+ others(36): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 1/31 | chr1 | TogoVar | |||||||
EPS15_chr1_51349263_51524266 | 51357391 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0139 | 1 | 152 | 0.0066 | 21 | c.254 others(38): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 24/24 | chr1 | TogoVar |