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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EML5_chr14_88607431_88797953 | 88793959 | G | GAATATGA others(27): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0307 | 1 | 330 | 0.0030 | 34 | c.-14 others(45): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 1007 | chr14 | TogoVar | |||||||
EML6_chr2_54718662_54977025 | 54823850 | T | TTCTCTCT others(27): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01175.hp2 HG01978.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0044a0001c0003t0002 | a0001c0001t0001g0063 a0001c0001t0001g0147 a0001c0001t0001g0177 others(2): Show |
5 | 155 | 0.0323 | 34 | c.525 others(51): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 5/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54848524 | T | TACACACA others(27): Show |
intron_variant | MODIFIER | NA18952.hp1 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0190 a0001c0001t0002g0189 |
2 | 3 | 0.6667 | 34 | c.118 others(51): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 9/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54882857 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01074.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0011a0001c0003t0002others(2): Show | a0001c0001t0001g0190 a0001c0002t0011g0131 a0001c0003t0002g0151 others(8): Show |
11 | 104 | 0.1058 | 34 | c.243 others(53): 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(27): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0004 | 1 | 22 | 0.0455 | 34 | c.496 others(51): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 35/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ENG_chr9_127810016_127859658 | 127837810 | C | CCATCCAT others(27): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01106.hp2 HG02572.hp1 others(8): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0014others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0014t0001others(1): Show | a0001c0001t0001g0045 a0001c0001t0001g0173 a0001c0001t0001g0291 others(8): Show |
11 | 276 | 0.0399 | 34 | c.219 others(51): Show |
ENG | ENSG00000106991.14 | transcript | ENST00000373203.9 | protein_coding | 2/14 | chr9 | TogoVar | |||||||
ENKUR_chr10_24976985_25021158 | 24997807 | T | TTATATAT others(27): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0247 a0001c0001t0005g0250 |
2 | 332 | 0.0060 | 34 | c.223 others(51): Show |
ENKUR | ENSG00000151023.17 | transcript | ENST00000331161.9 | protein_coding | 2/5 | chr10 | TogoVar | |||||||
ENKUR_chr10_24976985_25021158 | 25020276 | A | ATATCTAT others(27): Show |
upstream_gene_variant | MODIFIER | HG04204.hp2 NA19055.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0082 a0001c0001t0009g0117 |
2 | 243 | 0.0082 | 34 | c.-43 others(45): Show |
ENKUR | ENSG00000151023.17 | transcript | ENST00000331161.9 | protein_coding | 4119 | chr10 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667456 | A | ATGGAGAT others(27): Show |
downstream_gene_variant | MODIFIER | NA18949.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0045 | 1 | 361 | 0.0028 | 34 | c.*68 others(45): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2861 | chr18 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43247883 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0043 | 1 | 8 | 0.1250 | 34 | c.161 others(55): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 14/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43470396 | A | ATGTATAT others(27): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0103 | 1 | 175 | 0.0057 | 34 | c.-75 others(53): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
ENPP3_chr6_131632302_131752410 | 131721566 | C | CATGCAAA others(27): Show |
intron_variant | MODIFIER | HG02922.hp1 HG02965.hp1 HG03041.hp1 others(3): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0012 a0004c0004t0001g0027 a0004c0004t0001g0029 others(3): Show |
6 | 276 | 0.0217 | 34 | c.156 others(51): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ENPP7_chr17_79725943_79747219 | 79732121 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0123 | 1 | 242 | 0.0041 | 34 | c.253 others(49): Show |
ENPP7 | ENSG00000182156.10 | transcript | ENST00000328313.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ENPP7_chr17_79725943_79747219 | 79732121 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01346.hp2 HG01516.hp1 others(2): Show |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0002 | a0002c0001t0001g0048 a0002c0001t0001g0049 a0002c0001t0001g0139 others(1): Show |
5 | 246 | 0.0203 | 34 | c.253 others(49): Show |
ENPP7 | ENSG00000182156.10 | transcript | ENST00000328313.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ENPP7_chr17_79725943_79747219 | 79732134 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG02155.hp1 NA18979.hp1 NA19005.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0065 a0001c0003t0001g0222 a0001c0003t0001g0223 |
4 | 373 | 0.0107 | 34 | c.253 others(49): Show |
ENPP7 | ENSG00000182156.10 | transcript | ENST00000328313.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ENPP7_chr17_79725943_79747219 | 79746614 | G | GAGGGATC others(27): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 | 1 | 410 | 0.0024 | 34 | c.*48 others(45): Show |
ENPP7 | ENSG00000182156.10 | transcript | ENST00000328313.10 | protein_coding | 4396 | chr17 | TogoVar | |||||||
EPB41L2_chr6_130834347_131068245 | 130954040 | C | CTTTCTTT others(27): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0181 | 1 | 46 | 0.0217 | 34 | c.705 others(51): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 3/19 | chr6 | TogoVar | |||||||
EPB41L2_chr6_130834347_131068245 | 130972937 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0211 | 1 | 20 | 0.0500 | 34 | c.-14 others(53): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 1/19 | chr6 | TogoVar | |||||||
EPB41L3_chr18_5387386_5548997 | 5499829 | G | GTGTGTAT others(27): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01516.hp2 HG01891.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0002c0003t0003others(1): Show | a0001c0001t0001g0078 a0001c0001t0001g0152 a0001c0002t0002g0170 others(2): Show |
5 | 160 | 0.0313 | 34 | c.-11 others(53): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | TogoVar | |||||||
EPB41L3_chr18_5387386_5548997 | 5499829 | G | GTGTGTGT others(27): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0007 | a0007c0009 | a0007c0009t0002 | a0007c0009t0002g0021 | 1 | 156 | 0.0064 | 34 | c.-11 others(53): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 1/22 | chr18 | TogoVar | |||||||
EPB41L5_chr2_120008077_120184119 | 120098156 | T | TTGTGTGT others(27): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0210 | 1 | 4 | 0.2500 | 34 | c.117 others(53): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EPB41_chr1_28909569_29125041 | 28921961 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0222 | 1 | 226 | 0.0044 | 34 | c.-8+ others(49): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPB41_chr1_28909569_29125041 | 28935438 | A | AACACACA others(27): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02074.hp2 HG02965.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0129 a0001c0001t0002g0239 a0001c0001t0002g0240 others(3): Show |
6 | 215 | 0.0279 | 34 | c.-8+ others(51): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPB41_chr1_28909569_29125041 | 28935467 | A | ACACACAC others(27): Show |
intron_variant | MODIFIER | HG01515.hp2 HG03486.hp1 HG03704.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0136 a0001c0001t0002g0273 a0001c0001t0002g0290 others(1): Show |
4 | 155 | 0.0258 | 34 | c.-8+ others(51): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPB41_chr1_28909569_29125041 | 28935467 | A | ACACACAC others(27): Show |
intron_variant | MODIFIER | HG02683.hp2 NA18522.hp1 NA18522.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0020 a0001c0001t0002g0105 a0001c0001t0002g0108 others(2): Show |
5 | 156 | 0.0321 | 34 | c.-8+ others(51): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPB41_chr1_28909569_29125041 | 28935467 | A | ACACACAC others(27): Show |
intron_variant | MODIFIER | HG01257.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0163 a0001c0001t0005g0256 |
2 | 153 | 0.0131 | 34 | c.-8+ others(51): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPB41_chr1_28909569_29125041 | 28935467 | A | ACACACAC others(27): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0231 | 1 | 152 | 0.0066 | 34 | c.-8+ others(51): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPDR1_chr7_37915640_37956936 | 37937985 | A | ATTTTTTT others(27): Show |
intron_variant | MODIFIER | HG00609.hp1 NA18747.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0155 a0001c0002t0002g0069 |
2 | 6 | 0.3333 | 34 | c.270 others(53): Show |
EPDR1 | ENSG00000086289.13 | transcript | ENST00000199448.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EPHA4_chr2_221413027_221577304 | 221470524 | T | TAGTATCA others(27): Show |
intron_variant | MODIFIER | HG02523.hp1 NA18963.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0246 a0001c0002t0001g0245 |
2 | 292 | 0.0068 | 34 | c.131 others(55): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 5/17 | chr2 | TogoVar | |||||||
EPHA5_chr4_65314567_65675489 | 65574679 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02615.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0021a0001c0001t0026others(1): Show | a0001c0001t0010g0139 a0001c0001t0010g0149 a0001c0001t0010g0151 others(5): Show |
8 | 126 | 0.0635 | 34 | c.910 others(53): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 3/16 | chr4 | TogoVar | |||||||
EPHA5_chr4_65314567_65675489 | 65576054 | G | GAAAGAAA others(27): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 NA20300.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0015a0001c0002t0002 | a0001c0001t0007g0167 a0001c0001t0015g0188 a0001c0002t0002g0166 |
3 | 201 | 0.0149 | 34 | c.910 others(53): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 3/16 | chr4 | TogoVar | |||||||
EPHA5_chr4_65314567_65675489 | 65576113 | G | GAAAAGAA others(27): Show |
intron_variant | MODIFIER | HG02886.hp1 NA18970.hp2 NA18981.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0030a0001c0002t0002others(1): Show | a0001c0001t0005g0212 a0001c0001t0030g0165 a0001c0002t0002g0223 others(1): Show |
4 | 76 | 0.0526 | 34 | c.910 others(53): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 3/16 | chr4 | TogoVar | |||||||
EPHA5_chr4_65314567_65675489 | 65576115 | A | AAAAAAGA others(27): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0204 | 1 | 142 | 0.0070 | 34 | c.910 others(53): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 3/16 | chr4 | TogoVar | |||||||
EPHA6_chr3_96809594_97766532 | 96994732 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0032 | 1 | 36 | 0.0278 | 34 | c.111 others(53): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHA6_chr3_96809594_97766532 | 97001017 | G | GATATATA others(27): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02258.hp2 HG03130.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0010a0001c0002t0001a0001c0002t0025others(1): Show | a0001c0001t0010g0076 a0001c0002t0001g0005 a0001c0002t0001g0006 others(3): Show |
6 | 37 | 0.1622 | 34 | c.111 others(55): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHA6_chr3_96809594_97766532 | 97085928 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0061 | 1 | 33 | 0.0303 | 34 | c.111 others(55): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHA6_chr3_96809594_97766532 | 97085948 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 | 1 | 77 | 0.0130 | 34 | c.111 others(55): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHB1_chr3_134790260_135265467 | 135192301 | A | AAAAACAA others(27): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00733.hp2 others(56): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0014a0001c0001t0017others(28): Show | a0001c0001t0002g0049 a0001c0001t0002g0091 a0001c0001t0014g0032 others(56): Show |
59 | 72 | 0.8194 | 34 | c.188 others(51): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHX4_chr1_92024985_92068538 | 92030490 | G | GTGTGTGT others(27): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0204 | 1 | 221 | 0.0045 | 34 | c.231 others(49): Show |
EPHX4 | ENSG00000172031.7 | transcript | ENST00000370383.5 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
EPN2_chr17_19232366_19341715 | 19289724 | G | GTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0111 | 1 | 50 | 0.0200 | 34 | c.766 others(51): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EPN2_chr17_19232366_19341715 | 19318549 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02698.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010 | a0001c0001t0005g0056 a0001c0001t0010g0042 |
2 | 43 | 0.0465 | 34 | c.114 others(53): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EPRS1_chr1_219963600_220051505 | 219971795 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00642.hp2 others(21): Show |
a0001a0013 | a0001c0001a0013c0027 | a0001c0001t0002a0013c0027t0002 | a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0057 others(21): Show |
24 | 220 | 0.1091 | 34 | c.432 others(51): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 30/31 | chr1 | TogoVar | |||||||
EPS15L1_chr19_16350247_16476970 | 16369676 | A | AGTGTGTG others(27): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 21 | 0.0476 | 34 | c.238 others(53): Show |
EPS15L1 | ENSG00000127527.14 | transcript | ENST00000455140.7 | protein_coding | 22/23 | chr19 | TogoVar | |||||||
ERAP1_chr5_96769484_96812945 | 96808187 | C | CGTGTGTG others(27): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 37 | 0.0270 | 34 | c.-34 others(43): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 243 | chr5 | TogoVar | |||||||
ERBB2_chr17_39695064_39733658 | 39724272 | A | ATTTTTTT others(27): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0105 | 1 | 127 | 0.0079 | 34 | c.230 others(51): Show |
ERBB2 | ENSG00000141736.14 | transcript | ENST00000269571.10 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ERBB4_chr2_211370717_212543802 | 211611407 | A | AGCTTTAC others(27): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0041 | 1 | 16 | 0.0625 | 34 | c.230 others(53): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 19/27 | chr2 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212391751 | A | AATATTGA others(27): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02922.hp2 HG03225.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(4): Show | a0001c0001t0001g0045 a0001c0001t0003g0050 a0001c0001t0012g0001 others(4): Show |
7 | 56 | 0.1250 | 34 | c.82+ others(53): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBIN_chr5_65921575_66087546 | 66018487 | T | TATAATAT others(27): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 226 | 0.0044 | 34 | c.534 others(51): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1121725 | C | CTCTATCT others(27): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0002 | a0002c0002t0017 | a0002c0002t0017g0077 | 1 | 151 | 0.0066 | 34 | c.156 others(53): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1121940 | T | TGTGCCTA others(27): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0037 | 1 | 160 | 0.0063 | 34 | c.156 others(53): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | chr12 | TogoVar |